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Fetal anomalies v0.1524 WRAP53 Alison Yeung Marked gene: WRAP53 as ready
Fetal anomalies v0.1524 WRAP53 Alison Yeung Gene: wrap53 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1524 WRAP53 Alison Yeung Classified gene: WRAP53 as Red List (low evidence)
Fetal anomalies v0.1524 WRAP53 Alison Yeung Added comment: Comment on list classification: Not suitable for fetal anomalies list
Fetal anomalies v0.1524 WRAP53 Alison Yeung Gene: wrap53 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1523 STK4 Zornitza Stark Marked gene: STK4 as ready
Fetal anomalies v0.1523 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1523 STK4 Zornitza Stark Classified gene: STK4 as Green List (high evidence)
Fetal anomalies v0.1523 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1521 SPEN Zornitza Stark Marked gene: SPEN as ready
Fetal anomalies v0.1521 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Fetal anomalies v0.1521 SPEN Zornitza Stark Classified gene: SPEN as Green List (high evidence)
Fetal anomalies v0.1521 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Marked gene: SMAD6 as ready
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Classified gene: SMAD6 as Green List (high evidence)
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1519 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Fetal anomalies v0.1519 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Fetal anomalies v0.1519 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from RAINE SYNDROME to Raine syndrome MIM#259775
Fetal anomalies v0.1518 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Gene: robo4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Classified gene: ROBO4 as Amber List (moderate evidence)
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Gene: robo4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1516 ROBO4 Zornitza Stark reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1516 PRKACB Zornitza Stark Marked gene: PRKACB as ready
Fetal anomalies v0.1516 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Fetal anomalies v0.1516 PRKACB Zornitza Stark Classified gene: PRKACB as Green List (high evidence)
Fetal anomalies v0.1516 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Fetal anomalies v0.1515 PRKACA Zornitza Stark Marked gene: PRKACA as ready
Fetal anomalies v0.1515 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Fetal anomalies v0.1515 WRAP53 Alison Yeung reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM #613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1515 PRKACA Zornitza Stark Classified gene: PRKACA as Green List (high evidence)
Fetal anomalies v0.1515 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Fetal anomalies v0.1514 FAM20A Zornitza Stark Marked gene: FAM20A as ready
Fetal anomalies v0.1514 FAM20A Zornitza Stark Gene: fam20a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1514 FAM20A Zornitza Stark Phenotypes for gene: FAM20A were changed from AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME to Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690
Fetal anomalies v0.1513 FAM20A Zornitza Stark Publications for gene: FAM20A were set to
Fetal anomalies v0.1512 FAM20A Zornitza Stark Classified gene: FAM20A as Red List (low evidence)
Fetal anomalies v0.1512 FAM20A Zornitza Stark Gene: fam20a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1511 LINS1 Zornitza Stark Marked gene: LINS1 as ready
Fetal anomalies v0.1511 LINS1 Zornitza Stark Gene: lins1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1511 LINS1 Zornitza Stark Phenotypes for gene: LINS1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 27 (MIM#614340); autosomal recessive intellectual disability (MIM#614340)
Fetal anomalies v0.1510 LINS1 Zornitza Stark Publications for gene: LINS1 were set to
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Marked gene: PRDM6 as ready
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Gene: prdm6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Classified gene: PRDM6 as Red List (low evidence)
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Gene: prdm6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1508 PRDM6 Zornitza Stark reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Patent ductus arteriosus 3 - MIM#617039; Mode of inheritance: None
Fetal anomalies v0.1508 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Fetal anomalies v0.1508 FAM126A Zornitza Stark Gene: fam126a has been classified as Green List (High Evidence).
Fetal anomalies v0.1508 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 5 to Leukodystrophy, hypomyelinating, 5 MIM#610532
Fetal anomalies v0.1507 FAM126A Zornitza Stark Publications for gene: FAM126A were set to
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Marked gene: NKX2-6 as ready
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Fetal anomalies v0.1505 NKX2-6 Zornitza Stark Classified gene: NKX2-6 as Amber List (moderate evidence)
Fetal anomalies v0.1505 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1504 NKX2-6 Zornitza Stark reviewed gene: NKX2-6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1504 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Fetal anomalies v0.1504 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1504 KRT74 Zornitza Stark Phenotypes for gene: KRT74 were changed from HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 to Woolly hair, autosomal dominant (MIM#194300)
Fetal anomalies v0.1503 KRT74 Zornitza Stark Publications for gene: KRT74 were set to
Fetal anomalies v0.1502 KRT74 Zornitza Stark Mode of inheritance for gene: KRT74 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1501 KRT74 Zornitza Stark Classified gene: KRT74 as Red List (low evidence)
Fetal anomalies v0.1501 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1500 FAH Zornitza Stark Marked gene: FAH as ready
Fetal anomalies v0.1500 FAH Zornitza Stark Gene: fah has been classified as Red List (Low Evidence).
Fetal anomalies v0.1500 YY1 Alison Yeung Marked gene: YY1 as ready
Fetal anomalies v0.1500 YY1 Alison Yeung Gene: yy1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1500 FAH Zornitza Stark Phenotypes for gene: FAH were changed from TYROSINEMIA TYPE 1 to Tyrosinemia, type I, MIM#276700
Fetal anomalies v0.1499 FAH Zornitza Stark Publications for gene: FAH were set to
Fetal anomalies v0.1499 YY1 Alison Yeung Phenotypes for gene: YY1 were changed from INTELLECTUAL DISABILITY to Gabriele-de Vries syndrome, OMIM #617557
Fetal anomalies v0.1498 FAH Zornitza Stark Classified gene: FAH as Red List (low evidence)
Fetal anomalies v0.1498 FAH Zornitza Stark Gene: fah has been classified as Red List (Low Evidence).
Fetal anomalies v0.1497 YY1 Alison Yeung Mode of inheritance for gene: YY1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1496 FAH Zornitza Stark reviewed gene: FAH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1496 YY1 Alison Yeung reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Green List (high evidence)
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Marked gene: KCNJ8 as ready
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Mode of inheritance for gene: KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1494 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Green List (high evidence)
Fetal anomalies v0.1494 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1493 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Fetal anomalies v0.1493 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1493 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Fetal anomalies v0.1493 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1492 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1492 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1491 MESP1 Zornitza Stark Marked gene: MESP1 as ready
Fetal anomalies v0.1491 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1491 MESP1 Zornitza Stark Classified gene: MESP1 as Amber List (moderate evidence)
Fetal anomalies v0.1491 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Classified gene: HSPA9 as Green List (high evidence)
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1489 GM2A Ain Roesley reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28417072, 28192816, 27402091; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1489 FOXH1 Zornitza Stark reviewed gene: FOXH1: Rating: RED; Mode of pathogenicity: None; Publications: 32003456; Phenotypes: Congenital heart disease; Mode of inheritance: None
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Classified gene: FBRSL1 as Green List (high evidence)
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Fetal anomalies v0.1488 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Fetal anomalies v0.1488 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 CITED2 Zornitza Stark Publications for gene: CITED2 were set to 11694877; 16287139
Fetal anomalies v0.1487 CITED2 Zornitza Stark Classified gene: CITED2 as Green List (high evidence)
Fetal anomalies v0.1487 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1486 CITED2 Zornitza Stark reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: None
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Classified gene: BMPR2 as Red List (low evidence)
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1485 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1485 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Fetal anomalies v0.1485 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1485 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis 259720 to Osteopetrosis, autosomal recessive 5 (MIM#259720)
Fetal anomalies v0.1484 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Fetal anomalies v0.1483 OCLN Zornitza Stark Marked gene: OCLN as ready
Fetal anomalies v0.1483 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Fetal anomalies v0.1483 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 to Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486)
Fetal anomalies v0.1482 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Fetal anomalies v0.1481 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
Fetal anomalies v0.1481 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1481 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria 251290 to Pseudo-TORCH syndrome 1 (MIM#251290)
Fetal anomalies v0.1480 OCLN Zornitza Stark Publications for gene: OCLN were set to
Fetal anomalies v0.1479 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3-M SYNDROME 2 to 3-M syndrome 2 (MIM#612921)
Fetal anomalies v0.1478 OBSL1 Zornitza Stark Publications for gene: OBSL1 were set to
Fetal anomalies v0.1477 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Fetal anomalies v0.1477 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1477 GLI1 Ain Roesley reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34721536, 31621941, 31549748, 30620395; Phenotypes: Polydactyly, postaxial, type A8 MIM#618123, Polydactyly, preaxial I MIM#174400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1477 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Fetal anomalies v0.1477 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Fetal anomalies v0.1477 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242)
Fetal anomalies v0.1476 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Fetal anomalies v0.1475 NR5A1 Zornitza Stark Marked gene: NR5A1 as ready
Fetal anomalies v0.1475 NR5A1 Zornitza Stark Gene: nr5a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1475 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200 to 46XY sex reversal 2, dosage-sensitive MIM#300018
Fetal anomalies v0.1474 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Fetal anomalies v0.1473 NR5A1 Zornitza Stark Phenotypes for gene: NR5A1 were changed from SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3 to 46, XX sex reversal 4 (MIM#617480); 46XY sex reversal 3 (MIM#612965)
Fetal anomalies v0.1472 NR5A1 Zornitza Stark Publications for gene: NR5A1 were set to
Fetal anomalies v0.1471 NR5A1 Zornitza Stark Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1470 NR0B1 Zornitza Stark Classified gene: NR0B1 as Amber List (moderate evidence)
Fetal anomalies v0.1470 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1469 NR0B1 Zornitza Stark Tag SV/CNV tag was added to gene: NR0B1.
Fetal anomalies v0.1469 GFRA1 Ain Roesley reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117, 33020172; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 GATA3 Ain Roesley reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663634; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GANAB Ain Roesley reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259053, 33097077; Phenotypes: Polycystic kidney disease 3 MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GABRB2 Ain Roesley reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 27789573, 33325057; Phenotypes: Developmental and epileptic encephalopathy 92 MIM#617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 ZNF699 Krithika Murali gene: ZNF699 was added
gene: ZNF699 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome - #619488
Review for gene: ZNF699 was set to GREEN
Added comment: DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding from infancy.

Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems.

Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections.
Sources: Literature, Expert list
Fetal anomalies v0.1469 ZMYM2 Krithika Murali gene: ZMYM2 was added
gene: ZMYM2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities - MIM#619522
Review for gene: ZMYM2 was set to GREEN
Added comment: Approximately half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects
Sources: Expert list, Literature
Fetal anomalies v0.1469 UBR7 Krithika Murali gene: UBR7 was added
gene: UBR7 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome - MIM#619189
Review for gene: UBR7 was set to GREEN
Added comment: Biallalic variants associated with Li-Campeau syndrome - identified in 7 affected individuals from 6 unrelated families. Phenotypic features include cardiac defects (5/7 - VSD, ASD, PDA, PFO)

Other phenotypic features include: short stature (ht <3rd centile), developmental delay, urogenital anomalies (cryptorchidism, small penis); seizures; hypotonia; hypothyroidism; ptosis; dysmorphic features
Sources: Literature, Expert list
Fetal anomalies v0.1469 TLL1 Krithika Murali gene: TLL1 was added
gene: TLL1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 31570783
Phenotypes for gene: TLL1 were set to Atrial septal defect 6 - MIM#613087; congenital heart disease
Review for gene: TLL1 was set to GREEN
Added comment: Biallelic variants embryonically lethal in mouse model from cardiac failure with associated cardiac defects. Heterozygous missense variants detected in patients from an ASD cohort with supportive follow-up functional studies
Sources: Expert list, Literature
Fetal anomalies v0.1469 TBX2 Krithika Murali gene: TBX2 was added
gene: TBX2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Congenital heart disease; skeletal abnormalities; thymus aplasia
Review for gene: TBX2 was set to GREEN
Added comment: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted.

Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM58A Belinda Chong reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28225384; Phenotypes: STAR syndrome MIM#300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.1469 STK4 Krithika Murali gene: STK4 was added
gene: STK4 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868
Review for gene: STK4 was set to GREEN
Added comment: Biallelic variants identified in 12 affected individuals from 5 unrelated families with two mouse model studies. Immunodeficiencyphenotype but cardiac malformations that are potentially detectable antenatally also a typical feature.
Sources: Literature, Expert list
Fetal anomalies v0.1469 SPRED2 Krithika Murali gene: SPRED2 was added
gene: SPRED2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to cardiac defects; skeletal anomalies
Review for gene: SPRED2 was set to GREEN
Added comment: Homozygous variants identified in four subjects from three families with a clinical phenotype that included developmental delay, ID, cardiac defects, short stature, skeletal anomalies and dysmorphic features. Cardiac defects and skeletal anomalies potentially ascertainable antenatally.
Sources: Expert list, Literature
Fetal anomalies v0.1469 SPEN Krithika Murali gene: SPEN was added
gene: SPEN was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome - MIM#619312
Review for gene: SPEN was set to GREEN
Added comment: Radio et al. (2021) reported heterozygous SPEN variants in 34 individuals from 33 unrelated families with had global developmental delay, ID, behavioural issues and dysmorphic features. Other features included hypotonia, gait imbalance, pyramidal signs and seizures.

Findings potentially ascertainable antenatally:
- Brain imaging abnormalities include polymicrogyria, heterotopia, cerebellar atrophy, periventricular white matter defects, agenesis of the corpus callosum, and tethered cord.
- Congenital heart defects also present in a significant proportion.
Sources: Expert list, Literature
Fetal anomalies v0.1469 SMAD6 Krithika Murali gene: SMAD6 was added
gene: SMAD6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 22275001; 31138930; 27606499; 32499606
Phenotypes for gene: SMAD6 were set to Aortic valve disease 2 - MIM#614823; {Craniosynostosis 7, susceptibility to} - MIM#617439; {Radioulnar synostosis, nonsyndromic} - #179300
Review for gene: SMAD6 was set to GREEN
Added comment: Heterozygous SMAD6 variants have been reported with:
congenital cardiovascular malformations including valvular disease
radioulnar synostosis
craniosynostosis (penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function)
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM20C Belinda Chong reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 20825432, 17924334; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 ROBO4 Krithika Murali gene: ROBO4 was added
gene: ROBO4 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to Aortic valve disease 3- MIM#618496
Review for gene: ROBO4 was set to GREEN
Added comment: Heterozygous variants identified in individuals from 2 unrelated families with bicuspid aortic valve and aortic dilatation. Supportive functional data. Incomplete penetrance also a feature.
Sources: Literature, Expert list
Fetal anomalies v0.1469 PRKACB Krithika Murali gene: PRKACB was added
gene: PRKACB was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2 - MIM#619143
Review for gene: PRKACB was set to GREEN
Added comment: Heterozygous variants reported in 4 unrelated probands with Cardioacrofacial dysplasia-2 (CAFD2) - characterized by congenital cardiac defects (atrium or atrioventricular septal defect mainly); limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly); and dysmorphic facial features. Developmental delay of variable severity has also been observed
Sources: Literature, Expert list
Fetal anomalies v0.1469 PRKACA Krithika Murali gene: PRKACA was added
gene: PRKACA was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759
Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1-MIM#619142
Review for gene: PRKACA was set to GREEN
Added comment: Heterozygous variants were identified in affected individuals from 3 unrelated families and associated with cardioacrofacial dysplasia-1 (CAFD1). Phenotype includes congenital cardiac defects (mainly atrium or atrioventricular septal defect), limb anomalies (short limbs, brachydactyly, postaxial polydactyly) and dysmorphic facial features. Fetal phenotype also reported.
Sources: Expert list, Literature
Fetal anomalies v0.1469 FAM20A Belinda Chong reviewed gene: FAM20A: Rating: RED; Mode of pathogenicity: None; Publications: 23468644, 18597613, 21549343, 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 LINS1 Daniel Flanagan reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23773660, 21937992, 32499722, 28181389; Phenotypes: Mental retardation, autosomal recessive 27 (MIM#614340), autosomal recessive intellectual disability (MIM#614340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1469 PRDM6 Krithika Murali gene: PRDM6 was added
gene: PRDM6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM6 were set to 27181681
Phenotypes for gene: PRDM6 were set to Patent ductus arteriosus 3 - MIM#617039
Review for gene: PRDM6 was set to GREEN
Added comment: In 3 unrelated families segregating autosomal dominant nonsyndromic patent ductus arteriosus - usually diagnosed in the neonate
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM126A Belinda Chong reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21911699, 17928815, 17683097, 16951682; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 NKX2-6 Krithika Murali Deleted their comment
Fetal anomalies v0.1469 NKX2-6 Krithika Murali edited their review of gene: NKX2-6: Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations, persistent truncus arteriosus and athymia; Changed phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095
Fetal anomalies v0.1469 NKX2-6 Krithika Murali gene: NKX2-6 was added
gene: NKX2-6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-6 were set to 24421281; 15649947
Review for gene: NKX2-6 was set to GREEN
Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations and athymia
Sources: Literature, Expert list
Fetal anomalies v0.1469 KRT74 Daniel Flanagan reviewed gene: KRT74: Rating: RED; Mode of pathogenicity: None; Publications: 21188418; Phenotypes: Woolly hair, autosomal dominant (MIM#194300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1469 FAH Belinda Chong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15759101; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 MYBPC3 Krithika Murali gene: MYBPC3 was added
gene: MYBPC3 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 16679492; 17937428; 19858127
Phenotypes for gene: MYBPC3 were set to Neonatal hypertrophic cardiomyopathy; Cardiomyopathy, hypertrophic, 4 - MIM#115197
Review for gene: MYBPC3 was set to GREEN
Added comment: 16679492 - two unrelated neonates with severe hypertrophic cardiomyopathy caused by compound heterozygous truncating mutations in the MYBPC3 gene (no antenatal findings reported)

17937428 - 20 Old Order Amish children with severe neonatal hypertrophic cardiomyopathy caused by a novel homozygous splice site mutation in the MYBPC3 gene, diagnosed in the first 3 weeks of life, surviving individuals required cardiac transplant before age 1

19858127 - infant with fatal cardiomyopathy and skeletal myopathy due to a homozygous mutation, p.R943X
Sources: Literature, Expert list
Fetal anomalies v0.1469 KCNJ8 Daniel Flanagan reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Fetal anomalies v0.1469 MMP15 Krithika Murali gene: MMP15 was added
gene: MMP15 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 33875846
Phenotypes for gene: MMP15 were set to Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Gene reviewed Dec 2021 - 3 individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature, Expert list
Fetal anomalies v0.1469 MIB1 Krithika Murali gene: MIB1 was added
gene: MIB1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIB1 were set to 33057194
Phenotypes for gene: MIB1 were set to Congenital heart disease
Review for gene: MIB1 was set to AMBER
Added comment: Last reviewed March and Dec 2021 - no additional evidence

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert list, Literature
Fetal anomalies v0.1469 MESP1 Krithika Murali gene: MESP1 was added
gene: MESP1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203
Phenotypes for gene: MESP1 were set to Congenital heart disease
Review for gene: MESP1 was set to AMBER
Added comment: Gene last reviewed April 2021 - Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development.

No additional published evidence.
Sources: Literature, Expert list
Fetal anomalies v0.1469 HSPA9 Krithika Murali gene: HSPA9 was added
gene: HSPA9 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452; 26491070
Phenotypes for gene: HSPA9 were set to Even-plus syndrome - MIM#616854; Anemia, sideroblastic, 4- #182170
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.
2/5 with developmental delay and abnormalities of the corpus callosum
4/5 with congenital heart disease

Biallelic variants also associated with congenital sideroblastic anaemia. Some patients with a a heterozygous LoF variant have developed congenital sideroblastic anaemia if a particular SNP is presence in trans correlating with reduced mRNA expression (pseudodominant pattern of inheritance)
Sources: Literature, Expert list
Fetal anomalies v0.1469 HAND2 Krithika Murali gene: HAND2 was added
gene: HAND2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HAND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAND2 were set to 26865696; 32134193; 26676105
Phenotypes for gene: HAND2 were set to Congenital heart defects
Review for gene: HAND2 was set to GREEN
Added comment: Heterozygous LoF variants associated with congenital heart defects reported in at least 3 unrelated families.
Sources: Literature, Expert list
Fetal anomalies v0.1469 HAND1 Krithika Murali gene: HAND1 was added
gene: HAND1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HAND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141
Phenotypes for gene: HAND1 were set to Congenital heart defects
Review for gene: HAND1 was set to GREEN
Added comment: Testing of hypoplastic human hearts (18276607) and those with septatation defects (19586923) demonstrated impairment in HAND1 function

Germline LoF variants associated with congenital heart defects
Sources: Literature, Expert list
Fetal anomalies v0.1469 GATA5 Krithika Murali gene: GATA5 was added
gene: GATA5 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: GATA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GATA5 were set to 27066509; 23289003; 22961344; 23031282
Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5 - #617912
Review for gene: GATA5 was set to GREEN
Added comment: Heterozygous variants asociated with multiple types of congenital heart defects (septal defects, ToF). Autosomal recessive inheritance also reported in a patient with double outflow right ventricle in a consanguineous Lebanese family
Sources: Literature, Expert list
Fetal anomalies v0.1469 FOXH1 Krithika Murali gene: FOXH1 was added
gene: FOXH1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXH1 were set to 19933292; 18538293; 19525021
Phenotypes for gene: FOXH1 were set to Congenital heart disease; holoprosencephaly
Review for gene: FOXH1 was set to GREEN
Added comment: Associated with congenital heart defects (including septal defects, tetralogy of fallot and transposition of the great arteries) as well as holoprosencephaly with supportive functional studies.
Sources: Expert list, Literature
Fetal anomalies v0.1469 FBRSL1 Krithika Murali gene: FBRSL1 was added
gene: FBRSL1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618; 34805182
Phenotypes for gene: FBRSL1 were set to Congenital malformations; congenital heart defect
Review for gene: FBRSL1 was set to GREEN
Added comment: Associated with novel malformation and intellectual disability syndrome. Three unrelated children with de novo PTCs that escape NMD, with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations - 2/3 had heart defects (ASD, VSD), cleft palate and hearing impairement. Supported by Xenopus oocyte functional studies
Sources: Literature
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Phenotypes for gene: AKR1D1 were changed from BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 to Bile acid synthesis defect, congenital, 2, MIM# 235555
Fetal anomalies v0.1468 AKR1D1 Zornitza Stark Publications for gene: AKR1D1 were set to
Fetal anomalies v0.1467 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: RED; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1467 AK2 Zornitza Stark Marked gene: AK2 as ready
Fetal anomalies v0.1467 AK2 Zornitza Stark Gene: ak2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1467 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from RETICULAR DYSGENESIS to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Fetal anomalies v0.1466 AK2 Zornitza Stark Publications for gene: AK2 were set to
Fetal anomalies v0.1465 AK2 Zornitza Stark reviewed gene: AK2: Rating: RED; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1465 AIRE Zornitza Stark Marked gene: AIRE as ready
Fetal anomalies v0.1465 AIRE Zornitza Stark Gene: aire has been classified as Red List (Low Evidence).
Fetal anomalies v0.1465 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Fetal anomalies v0.1464 AIRE Zornitza Stark reviewed gene: AIRE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1464 CITED2 Krithika Murali gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 11694877; 16287139
Phenotypes for gene: CITED2 were set to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431; Congenital heart disease
Review for gene: CITED2 was set to GREEN
Added comment: Variants associated with congenital heart defects. Supportive functional evidence and animal models
Sources: Literature
Fetal anomalies v0.1464 BMPR2 Krithika Murali gene: BMPR2 was added
gene: BMPR2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 31382961
Phenotypes for gene: BMPR2 were set to Persistent pulmonary hypertension of the neonate; Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600; Pulmonary venoocclusive disease 1-#265450
Penetrance for gene: BMPR2 were set to Incomplete
Review for gene: BMPR2 was set to AMBER
Added comment: BMPR2 gene variants known to be associated with sporadic/familial pulmonary hypertension and pulmonary venoocclusive disease. Fetal phenotype not reported but known to be associated with persistent pulmonary hypertension of the neonate - critical condition diagnosed in the early postnatal period.
Sources: Literature
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from LEBER CONGENITAL AMAUROSIS 4 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Fetal anomalies v0.1463 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Fetal anomalies v0.1462 AIPL1 Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1461 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: RED; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1461 AGXT Zornitza Stark Marked gene: AGXT as ready
Fetal anomalies v0.1461 AGXT Zornitza Stark Gene: agxt has been classified as Red List (Low Evidence).
Fetal anomalies v0.1461 AGXT Zornitza Stark Phenotypes for gene: AGXT were changed from HYPEROXALURIA, PRIMARY, TYPE 1 to Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823
Fetal anomalies v0.1460 AGXT Zornitza Stark Publications for gene: AGXT were set to
Fetal anomalies v0.1459 AGXT Zornitza Stark reviewed gene: AGXT: Rating: RED; Mode of pathogenicity: None; Publications: 2039493, 19479957; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1459 AGRN Zornitza Stark Marked gene: AGRN as ready
Fetal anomalies v0.1459 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1459 AGRN Zornitza Stark Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence (FADS)
Fetal anomalies v0.1458 AGRN Zornitza Stark Classified gene: AGRN as Amber List (moderate evidence)
Fetal anomalies v0.1458 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from Lipodystrophy 608594 to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Fetal anomalies v0.1456 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 22902344
Fetal anomalies v0.1455 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1455 AGA Zornitza Stark edited their review of gene: AGA: Changed publications: 1703489, 1904874, 8064811, 8946839
Fetal anomalies v0.1455 AGA Zornitza Stark Marked gene: AGA as ready
Fetal anomalies v0.1455 AGA Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
Fetal anomalies v0.1455 AGA Zornitza Stark Publications for gene: AGA were set to
Fetal anomalies v0.1454 AGA Zornitza Stark Phenotypes for gene: AGA were changed from ASPARTYLGLUCOSAMINURIA to Aspartylglucosaminuria, MIM#208400
Fetal anomalies v0.1453 AGA Zornitza Stark changed review comment from: Intellectual disability is a prominent feature of this metabolic disorder.; to: Progressive metabolic disorder with features becoming more prominent over time.
Fetal anomalies v0.1453 AGA Zornitza Stark edited their review of gene: AGA: Changed rating: RED
Fetal anomalies v0.1453 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1453 AFF2 Zornitza Stark Marked gene: AFF2 as ready
Fetal anomalies v0.1453 AFF2 Zornitza Stark Gene: aff2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1453 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from FRAGILE X-E MENTAL RETARDATION SYNDROME to Mental retardation, X-linked, FRAXE type 309548
Fetal anomalies v0.1452 AFF2 Zornitza Stark Publications for gene: AFF2 were set to
Fetal anomalies v0.1451 AFF2 Zornitza Stark Tag SV/CNV tag was added to gene: AFF2.
Tag STR tag was added to gene: AFF2.
Fetal anomalies v0.1451 AFF2 Zornitza Stark changed review comment from: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.; to: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.

Congenital anomalies are not a prominent feature of this disorder.
Fetal anomalies v0.1451 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed rating: RED
Fetal anomalies v0.1451 ADA Zornitza Stark Marked gene: ADA as ready
Fetal anomalies v0.1451 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Fetal anomalies v0.1451 ADA Zornitza Stark Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Fetal anomalies v0.1450 ADA Zornitza Stark edited their review of gene: ADA: Changed phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
Fetal anomalies v0.1450 ADA Zornitza Stark reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 OSTM1 Daniel Flanagan reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Fetal anomalies v0.1449 ACVRL1 Zornitza Stark Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Fetal anomalies v0.1448 ACVRL1 Zornitza Stark Mode of inheritance for gene: ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1447 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Fetal anomalies v0.1447 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.; to: There is debate about when AVMs form and whether they are congenital or not. However, neonatal presentations reported, and at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN; Changed publications: 32170914, 26126400, 21988128
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: Typically presents post-natally.; to: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: AMBER; Changed publications: 32170914, 26126400
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1446 ACAT1 Zornitza Stark changed review comment from: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.; to: Primarily manifests as metabolic decompensation post-natally.
Fetal anomalies v0.1446 ACAT1 Zornitza Stark edited their review of gene: ACAT1: Changed rating: RED
Fetal anomalies v0.1446 ACADS Zornitza Stark reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ACADM Zornitza Stark reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from ADRENOLEUKODYSTROPHY, X-LINKED to Adrenoleukodystrophy, MIM# 300100
Fetal anomalies v0.1445 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 OPHN1 Daniel Flanagan reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial 256450 to Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857
Fetal anomalies v0.1444 ABCC8 Zornitza Stark Mode of inheritance for gene: ABCC8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1443 ABCC8 Zornitza Stark reviewed gene: ABCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from ANEMIA, SIDEROBLASTIC, WITH ATAXIA to Anaemia, sideroblastic, with ataxia, MIM# 301310
Fetal anomalies v0.1442 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from ABCB11-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR
Fetal anomalies v0.1441 ABCB11 Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1441 DCDC2 Zornitza Stark changed review comment from: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).; to: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).

Most reports are of neonatal cholangitis.
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from RENAL-HEPATIC CILIOPATHY to Nephronophthisis 19, MIM# 616217
Fetal anomalies v0.1440 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1439 OCLN Daniel Flanagan reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1 (MIM#251290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Fetal anomalies v0.1438 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Red List (low evidence)
Fetal anomalies v0.1438 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1437 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 OBSL1 Daniel Flanagan reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NUBPL Daniel Flanagan reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982452; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NR5A1 Daniel Flanagan reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513305; Phenotypes: 46, XX sex reversal 4 (MIM#617480), 46XY sex reversal 3 (MIM#612965); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan Deleted their review
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Fetal anomalies v0.1436 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Fetal anomalies v0.1435 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Fetal anomalies v0.1435 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1434 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Gene: cyb5r3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE to Methaemoglobinemia, type II, MIM# 250800
Fetal anomalies v0.1433 CYB5R3 Zornitza Stark reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Methaemoglobinemia, type II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1433 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Fetal anomalies v0.1433 CUX2 Zornitza Stark Gene: cux2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1433 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from Developmental epileptic encephalopathy to Epileptic encephalopathy, early infantile, 67, MIM#618141
Fetal anomalies v0.1432 CUX2 Zornitza Stark Publications for gene: CUX2 were set to
Fetal anomalies v0.1431 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1430 CUX2 Zornitza Stark Classified gene: CUX2 as Red List (low evidence)
Fetal anomalies v0.1430 CUX2 Zornitza Stark Gene: cux2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1429 CUX2 Zornitza Stark Deleted their comment
Fetal anomalies v0.1429 CUX2 Zornitza Stark edited their review of gene: CUX2: Added comment: Onset in infancy but congenital abnormalities are not a feature.; Changed rating: RED
Fetal anomalies v0.1429 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Fetal anomalies v0.1428 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Fetal anomalies v0.1427 CTU2 Zornitza Stark Classified gene: CTU2 as Green List (high evidence)
Fetal anomalies v0.1427 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Marked gene: CTNND1 as ready
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Phenotypes for gene: CTNND1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 2, MIM# 617681
Fetal anomalies v0.1425 CTNND1 Zornitza Stark Publications for gene: CTNND1 were set to
Fetal anomalies v0.1424 CTNND1 Zornitza Stark Classified gene: CTNND1 as Green List (high evidence)
Fetal anomalies v0.1424 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1423 CTNND1 Zornitza Stark changed review comment from: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues. Unclear from description whether significant ID present.
Sources: Literature; to: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues.
Sources: Literature
Fetal anomalies v0.1423 CTNND1 Zornitza Stark edited their review of gene: CTNND1: Changed rating: GREEN
Fetal anomalies v0.1423 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1423 CHRNE Zornitza Stark Classified gene: CHRNE as Green List (high evidence)
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1422 CHRNE Zornitza Stark changed review comment from: Well established association with congenital myasthenia, some individuals reported with arthrogryposis but cannot find specific reports of multiple pterygium syndrome.; to: Well established association with congenital myasthenia, some individuals reported with arthrogryposis.
Fetal anomalies v0.1422 CHRNE Zornitza Stark edited their review of gene: CHRNE: Changed rating: GREEN
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Fetal anomalies v0.1421 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Tag founder tag was added to gene: CTDP1.
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Classified gene: CTDP1 as Green List (high evidence)
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1419 CSTA Zornitza Stark Marked gene: CSTA as ready
Fetal anomalies v0.1419 CSTA Zornitza Stark Gene: csta has been classified as Red List (Low Evidence).
Fetal anomalies v0.1419 CSTA Zornitza Stark Phenotypes for gene: CSTA were changed from EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE to Peeling skin syndrome 4, MIM# 607936
Fetal anomalies v0.1418 CSTA Zornitza Stark Classified gene: CSTA as Red List (low evidence)
Fetal anomalies v0.1418 CSTA Zornitza Stark Gene: csta has been classified as Red List (Low Evidence).
Fetal anomalies v0.1417 CSTA Zornitza Stark reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 4, MIM# 607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1417 CRIPT Zornitza Stark Marked gene: CRIPT as ready
Fetal anomalies v0.1417 CRIPT Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1417 CRIPT Zornitza Stark Publications for gene: CRIPT were set to
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from HETEROTAXY SYNDROME to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Fetal anomalies v0.1415 CRELD1 Zornitza Stark Publications for gene: CRELD1 were set to
Fetal anomalies v0.1414 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Fetal anomalies v0.1412 CREB3L1 Zornitza Stark Classified gene: CREB3L1 as Green List (high evidence)
Fetal anomalies v0.1412 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1411 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1411 CRADD Zornitza Stark Marked gene: CRADD as ready
Fetal anomalies v0.1411 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Fetal anomalies v0.1411 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Fetal anomalies v0.1410 CRADD Zornitza Stark Publications for gene: CRADD were set to
Fetal anomalies v0.1409 CRADD Zornitza Stark Classified gene: CRADD as Green List (high evidence)
Fetal anomalies v0.1409 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Fetal anomalies v0.1408 HHAT Zornitza Stark Marked gene: HHAT as ready
Fetal anomalies v0.1408 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Fetal anomalies v0.1408 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Fetal anomalies v0.1408 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Fetal anomalies v0.1407 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300; 33749989
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to GREEN
Added comment: Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, micromelia, and sex reversal.
Sources: Expert Review
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, MIM# 617319
Fetal anomalies v0.1405 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Fetal anomalies v0.1404 CPAMD8 Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence)
Fetal anomalies v0.1404 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1403 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1403 COLQ Zornitza Stark Marked gene: COLQ as ready
Fetal anomalies v0.1403 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Fetal anomalies v0.1403 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, MIM#603034
Fetal anomalies v0.1402 COLQ Zornitza Stark Publications for gene: COLQ were set to 9689136; 11865139
Fetal anomalies v0.1401 COLQ Zornitza Stark Classified gene: COLQ as Red List (low evidence)
Fetal anomalies v0.1401 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Fetal anomalies v0.1400 COLQ Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with multiple pterygia specifically.; to: Well established gene-disease association, more than 10 families reported. However, contractures not reported, and variable age of onset/progression.
Fetal anomalies v0.1400 COLQ Zornitza Stark edited their review of gene: COLQ: Changed rating: RED
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Marked gene: HOXB1 as ready
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Phenotypes for gene: HOXB1 were changed from FACIAL PARESIS, HEREDITARY CONGENITAL, 3 to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880
Fetal anomalies v0.1399 HOXB1 Zornitza Stark Publications for gene: HOXB1 were set to
Fetal anomalies v0.1398 HOXB1 Zornitza Stark Classified gene: HOXB1 as Red List (low evidence)
Fetal anomalies v0.1398 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1397 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: RED; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744, MONDO:0013880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Fetal anomalies v0.1396 COLEC10 Zornitza Stark Classified gene: COLEC10 as Green List (high evidence)
Fetal anomalies v0.1396 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: Cleft lip/palate are a feature.; to: Cleft lip/palate are a feature. At least 4 families reported.
Fetal anomalies v0.1395 COLEC10 Zornitza Stark edited their review of gene: COLEC10: Changed publications: 28301481, 34740859
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: ID is not reported as a feature in molecularly confirmed cases with variants in this gene.; to: Cleft lip/palate are a feature.
Fetal anomalies v0.1395 COLEC10 Zornitza Stark edited their review of gene: COLEC10: Changed rating: GREEN
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 34, MIM# 616351
Fetal anomalies v0.1394 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Fetal anomalies v0.1393 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1392 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Red List (low evidence)
Fetal anomalies v0.1392 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1391 COL4A3BP Zornitza Stark edited their review of gene: COL4A3BP: Changed rating: RED
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Marked gene: COL25A1 as ready
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219
Fetal anomalies v0.1390 COL25A1 Zornitza Stark Publications for gene: COL25A1 were set to
Fetal anomalies v0.1389 COL25A1 Zornitza Stark Classified gene: COL25A1 as Red List (low evidence)
Fetal anomalies v0.1389 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1388 COL25A1 Zornitza Stark reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: None; Publications: 25500261, 26486031, 31875546, 26437029; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Fetal anomalies v0.1387 COL13A1 Zornitza Stark Classified gene: COL13A1 as Green List (high evidence)
Fetal anomalies v0.1387 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1386 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from ZBTB18 syndrome to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities
Fetal anomalies v0.1385 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Fetal anomalies v0.1384 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1383 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from PRIMROSE SYNDROME to Primrose syndrome, MIM# 259050
Fetal anomalies v0.1382 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Fetal anomalies v0.1381 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1380 ZBTB20 Zornitza Stark reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Phenotypes for gene: ZFP57 were changed from DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL to Diabetes mellitus, transient neonatal 1, OMIM #601410
Fetal anomalies v0.1379 ZFP57 Zornitza Stark Mode of inheritance for gene: ZFP57 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637; MONDO:0012322 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322
Fetal anomalies v0.1377 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to 20531442
Fetal anomalies v0.1375 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from HOLOPROSENCEPHALY to Holoprosencephaly 5, OMIM #609637
Fetal anomalies v0.1374 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Fetal anomalies v0.1373 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1372 ZBTB18 Alison Yeung reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ZBTB18 syndrome, Intellectual disability, microcephaly, corpus callosum abnormalities, OMIM #612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1372 ZBTB20 Alison Yeung reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primrose syndrome OMIM # 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1372 ZFP57 Alison Yeung reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal 1, OMIM #601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1372 ZIC2 Alison Yeung reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20531442; Phenotypes: Holoprosencephaly 5, OMIM #609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Marked gene: COL12A1 as ready
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1372 COL12A1 Zornitza Stark edited their review of gene: COL12A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1372 COL12A1 Zornitza Stark edited their review of gene: COL12A1: Changed phenotypes: Ullrich congenital muscular dystrophy 2, 616470, Bethlem myopathy 2, 616471
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Phenotypes for gene: COL12A1 were changed from ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471
Fetal anomalies v0.1371 COL12A1 Zornitza Stark Publications for gene: COL12A1 were set to
Fetal anomalies v0.1370 COL12A1 Zornitza Stark Classified gene: COL12A1 as Green List (high evidence)
Fetal anomalies v0.1370 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1369 COL12A1 Zornitza Stark reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604, 24334769, 21670218; Phenotypes: Bethlem myopathy 2, MIM# 616471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1369 COG6 Zornitza Stark Marked gene: COG6 as ready
Fetal anomalies v0.1369 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1369 COG6 Zornitza Stark Classified gene: COG6 as Green List (high evidence)
Fetal anomalies v0.1369 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1368 COG6 Zornitza Stark changed review comment from: ID is part of the phenotype.; to: IUGR and microcephaly are a feature.
Fetal anomalies v0.1368 COG5 Zornitza Stark Marked gene: COG5 as ready
Fetal anomalies v0.1368 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1368 COG5 Zornitza Stark Publications for gene: COG5 were set to
Fetal anomalies v0.1367 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Fetal anomalies v0.1367 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1366 COG5 Zornitza Stark changed review comment from: More than 5 unrelated families reported, ID is a consistent feature.; to: More than 5 unrelated families reported, microcephaly reported.
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Marked gene: ALDH1A2 as ready
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Gene: aldh1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Classified gene: ALDH1A2 as Green List (high evidence)
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Gene: aldh1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Marked gene: ADAMTS19 as ready
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Classified gene: ADAMTS19 as Green List (high evidence)
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1364 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Fetal anomalies v0.1364 TTC12 Zornitza Stark Gene: ttc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1364 TTC12 Zornitza Stark Classified gene: TTC12 as Red List (low evidence)
Fetal anomalies v0.1364 TTC12 Zornitza Stark Gene: ttc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1363 TP73 Zornitza Stark Marked gene: TP73 as ready
Fetal anomalies v0.1363 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Fetal anomalies v0.1363 TP73 Zornitza Stark Classified gene: TP73 as Green List (high evidence)
Fetal anomalies v0.1363 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Classified gene: SPEF2 as Red List (low evidence)
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1361 ALDH1A2 Krithika Murali gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 19886994; 10192400
Phenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; thymus aplasia
Review for gene: ALDH1A2 was set to GREEN
Added comment: Biallellic variants in two unrelated, non-consanguineous families associated with multiple anomalies - including congenital heart disease, eventration of the diaphragm/diaphragmatic hernia, pulmonary hypoplasia dysmorphic features, thymus aplasia - a number of which were detected antenatally. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due to in utero defects in early heart morphogenesis.
Sources: Expert list, Literature
Fetal anomalies v0.1361 ADAMTS19 Krithika Murali gene: ADAMTS19 was added
gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 32323311; 31844321
Phenotypes for gene: ADAMTS19 were set to Heart valve disease (HVD)
Review for gene: ADAMTS19 was set to GREEN
Added comment: PMID 32323311 reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies.

Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert list, Literature
Fetal anomalies v0.1361 TTC12 Krithika Murali gene: TTC12 was added
gene: TTC12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia, primary, 45 - MIM#618801
Review for gene: TTC12 was set to RED
Added comment: Four unrelated families reported, LoF variants, respiratory phenotype.
Sources: Literature
Fetal anomalies v0.1361 TP73 Krithika Murali gene: TP73 was added
gene: TP73 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284; 34077761
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466
Review for gene: TP73 was set to GREEN
Added comment: 7 unrelated families reported. In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls.

Clinical features included recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also had neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum.
Sources: Literature
Fetal anomalies v0.1361 SPEF2 Krithika Murali gene: SPEF2 was added
gene: SPEF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to RED
Added comment: Biallelic variants associated with sperm morphological abnormalities. In some individuals recurrent sinopulmonary infections and bronchiectasis noted consistent with PCD-like phenotype. Mouse model showed infertility phenotype, hydrocephalus, sinusitis. No fetal phenotype reported.
Sources: Literature
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Classified gene: CNTN1 as Amber List (moderate evidence)
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1360 CNTN1 Zornitza Stark edited their review of gene: CNTN1: Changed rating: AMBER
Fetal anomalies v0.1360 CNTN1 Zornitza Stark changed review comment from: Single family reported, some functional data, no further reports since 2008 identified. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.; to: Single family reported, some functional data, further family recently reported as part of a cohort. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.
Fetal anomalies v0.1360 CNTN1 Zornitza Stark edited their review of gene: CNTN1: Changed publications: 32779773, 19026398
Fetal anomalies v0.1360 CNTN1 Zornitza Stark Classified gene: CNTN1 as Red List (low evidence)
Fetal anomalies v0.1360 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1359 CNTN1 Zornitza Stark reviewed gene: CNTN1: Rating: RED; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from INTELLECTUAL DISABILITY WITH EPILEPSY to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Fetal anomalies v0.1358 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Fetal anomalies v0.1357 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1356 CNKSR2 Zornitza Stark Classified gene: CNKSR2 as Red List (low evidence)
Fetal anomalies v0.1356 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1355 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: RED; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1355 CNBP Zornitza Stark Tag STR tag was added to gene: CNBP.
Fetal anomalies v0.1355 CNBP Zornitza Stark Marked gene: CNBP as ready
Fetal anomalies v0.1355 CNBP Zornitza Stark Gene: cnbp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1355 CNBP Zornitza Stark Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, MIM#602668
Fetal anomalies v0.1354 CNBP Zornitza Stark Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1353 CNBP Zornitza Stark Classified gene: CNBP as Red List (low evidence)
Fetal anomalies v0.1353 CNBP Zornitza Stark Gene: cnbp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1352 CNBP Zornitza Stark reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 2, MIM# 602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1352 CLTC Zornitza Stark Mode of inheritance for gene: CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1351 CLTC Zornitza Stark Classified gene: CLTC as Red List (low evidence)
Fetal anomalies v0.1351 CLTC Zornitza Stark Gene: cltc has been classified as Red List (Low Evidence).
Fetal anomalies v0.1350 CLTC Zornitza Stark changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual. Microcephaly is acquired.
Fetal anomalies v0.1350 CLTC Zornitza Stark changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual.
Fetal anomalies v0.1350 CLTC Zornitza Stark edited their review of gene: CLTC: Changed rating: RED
Fetal anomalies v0.1350 CLPP Zornitza Stark Marked gene: CLPP as ready
Fetal anomalies v0.1350 CLPP Zornitza Stark Gene: clpp has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1350 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from PERRAULT SYNDROME to Perrault syndrome 3, MIM# 614129
Fetal anomalies v0.1349 CLPP Zornitza Stark Publications for gene: CLPP were set to
Fetal anomalies v0.1348 CLPP Zornitza Stark changed review comment from: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.

However, microcephaly reported in some.
Fetal anomalies v0.1348 CLPP Zornitza Stark edited their review of gene: CLPP: Changed rating: AMBER
Fetal anomalies v0.1348 CLPP Zornitza Stark changed review comment from: As far as I can ascertain, ID has only been reported in one consanguineous family and most affected individuals have the combination of deafness/POF.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.
Fetal anomalies v0.1348 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Fetal anomalies v0.1348 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1348 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Fetal anomalies v0.1347 CLP1 Zornitza Stark Classified gene: CLP1 as Green List (high evidence)
Fetal anomalies v0.1347 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1346 CLMP Zornitza Stark Marked gene: CLMP as ready
Fetal anomalies v0.1346 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Fetal anomalies v0.1346 CLMP Zornitza Stark Phenotypes for gene: CLMP were changed from CONGENITAL SHORT BOWEL SYNDROME to Congenital short bowel syndrome , MIM#615237
Fetal anomalies v0.1345 CLMP Zornitza Stark Publications for gene: CLMP were set to
Fetal anomalies v0.1344 CLMP Zornitza Stark Classified gene: CLMP as Green List (high evidence)
Fetal anomalies v0.1344 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Fetal anomalies v0.1343 CLMP Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, malrotation is a feature.
Fetal anomalies v0.1343 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1343 CIT Zornitza Stark Marked gene: CIT as ready
Fetal anomalies v0.1343 CIT Zornitza Stark Gene: cit has been classified as Green List (High Evidence).
Fetal anomalies v0.1343 CIT Zornitza Stark Publications for gene: CIT were set to
Fetal anomalies v0.1342 CIT Zornitza Stark Classified gene: CIT as Green List (high evidence)
Fetal anomalies v0.1342 CIT Zornitza Stark Gene: cit has been classified as Green List (High Evidence).
Fetal anomalies v0.1340 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Fetal anomalies v0.1340 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1340 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from WEAVER SYNDROME 2 to Weaver syndrome MIM#277590
Fetal anomalies v0.1339 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Fetal anomalies v0.1338 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1337 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Fetal anomalies v0.1337 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1337 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from EXOSTOSES, MULTIPLE, TYPE 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Exostoses, multiple, type 2, MIM# 133701
Fetal anomalies v0.1336 EXT2 Zornitza Stark Publications for gene: EXT2 were set to
Fetal anomalies v0.1335 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1334 EXT2 Zornitza Stark edited their review of gene: EXT2: Changed phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682, Exostoses, multiple, type 2, MIM# 133701; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1334 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Fetal anomalies v0.1334 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1334 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from HEREDITARY MULTIPLE EXOSTOSES TYPE 1; TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Fetal anomalies v0.1333 EXT1 Zornitza Stark Publications for gene: EXT1 were set to
Fetal anomalies v0.1332 EXT1 Zornitza Stark Mode of inheritance for gene: EXT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1331 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Fetal anomalies v0.1331 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1331 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome (MIM#225500)
Fetal anomalies v0.1330 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Fetal anomalies v0.1329 EVC Zornitza Stark Marked gene: EVC as ready
Fetal anomalies v0.1329 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Fetal anomalies v0.1329 EVC Zornitza Stark Phenotypes for gene: EVC were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome, MIM# 225500
Fetal anomalies v0.1328 EVC Zornitza Stark Publications for gene: EVC were set to
Fetal anomalies v0.1327 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Fetal anomalies v0.1327 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Fetal anomalies v0.1327 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from GLUTARIC ACIDURIA TYPE 2C to Glutaric acidemia IIC, MIM#231680
Fetal anomalies v0.1326 ETFDH Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature.
Fetal anomalies v0.1326 ETFB Zornitza Stark Marked gene: ETFB as ready
Fetal anomalies v0.1326 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Fetal anomalies v0.1326 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidaemia IIB, MIM#231680
Fetal anomalies v0.1325 ETFB Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature.
Fetal anomalies v0.1325 ETFA Zornitza Stark Marked gene: ETFA as ready
Fetal anomalies v0.1325 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Fetal anomalies v0.1325 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, MIM#231680
Fetal anomalies v0.1324 ETFA Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly a feature.
Fetal anomalies v0.1324 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Fetal anomalies v0.1324 ESCO2 Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1324 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Fetal anomalies v0.1323 ESCO2 Zornitza Stark Publications for gene: ESCO2 were set to
Fetal anomalies v0.1322 ERF Zornitza Stark Marked gene: ERF as ready
Fetal anomalies v0.1322 ERF Zornitza Stark Gene: erf has been classified as Green List (High Evidence).
Fetal anomalies v0.1322 ERF Zornitza Stark Phenotypes for gene: ERF were changed from Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; COMPLEX CRANIOSYNOSTOSIS to Chitayat syndrome, MIM#617180; Craniosynostosis 4, MIM#600775
Fetal anomalies v0.1321 ERF Zornitza Stark Publications for gene: ERF were set to
Fetal anomalies v0.1320 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1319 ERF Zornitza Stark changed review comment from: ID is not really part of the phenotype of either condition; mild learning difficulties described in some individuals affected by craniosynostosis 4.; to: Over 20 unrelated families reported. Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.

Variants in this gene are also associated with Chitayat syndrome, which has skeletal abnormalities as a feature.
Fetal anomalies v0.1319 ERF Zornitza Stark edited their review of gene: ERF: Changed rating: GREEN; Changed publications: 23354439, 26097063, 32370745, 30758909
Fetal anomalies v0.1319 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Fetal anomalies v0.1319 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1319 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from COCKAYNE SYNDROME TYPE B; DE SANCTIS-CACCHIONE SYNDROME; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1; UV-SENSITIVE SYNDROME to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800
Fetal anomalies v0.1318 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Fetal anomalies v0.1317 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Fetal anomalies v0.1317 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1317 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Fetal anomalies v0.1316 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936
Fetal anomalies v0.1315 ERCC5 Zornitza Stark changed review comment from: Well established gene-disease association, spectrum of severity, with COFS having significant ID, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.; to: Well established gene-disease association, spectrum of severity, with COFS having significant IUGR, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q to Fanconi anaemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965
Fetal anomalies v0.1314 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Fetal anomalies v0.1313 ERCC4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; to: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects, and XFE progeroid syndrome, with microcephaly a feature.
Fetal anomalies v0.1313 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi aanemia, complementation group Q, MIM# 615272, MONDO:0014108, XFE progeroid syndrome, MIM# 610965
Fetal anomalies v0.1313 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Fetal anomalies v0.1313 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1313 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from FANCONI ANEMIA; CEREBROOCULOFACIOSKELETAL SYNDROME 4 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Fetal anomalies v0.1312 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Fetal anomalies v0.1311 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Fetal anomalies v0.1311 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1311 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM to Vici syndrome, MIM# 242840
Fetal anomalies v0.1310 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Fetal anomalies v0.1309 EOGT Zornitza Stark Marked gene: EOGT as ready
Fetal anomalies v0.1309 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Fetal anomalies v0.1309 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from ADAMS OLIVER SYNDROME to Adams-Oliver syndrome 4, MIM#615297
Fetal anomalies v0.1308 EOGT Zornitza Stark Publications for gene: EOGT were set to
Fetal anomalies v0.1307 EOGT Zornitza Stark edited their review of gene: EOGT: Changed rating: GREEN
Fetal anomalies v0.1307 EOGT Zornitza Stark Deleted their comment
Fetal anomalies v0.1307 ADSL Zornitza Stark Marked gene: ADSL as ready
Fetal anomalies v0.1307 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Fetal anomalies v0.1307 ADSL Zornitza Stark Publications for gene: ADSL were set to
Fetal anomalies v0.1306 ADSL Zornitza Stark edited their review of gene: ADSL: Changed publications: 1302001, 22180458, 18524658, 27626380
Fetal anomalies v0.1306 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from ADENYLOSUCCINASE DEFICIENCY to Adenylosuccinase deficiency, MIM# 103050
Fetal anomalies v0.1305 ADSL Zornitza Stark reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1305 ACTC1 Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Four families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD. Two had the same variant, founder.
Fetal anomalies v0.1305 ELN Zornitza Stark Marked gene: ELN as ready
Fetal anomalies v0.1305 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Fetal anomalies v0.1305 ELN Zornitza Stark Phenotypes for gene: ELN were changed from ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS to Cutis laxa 123700; Supravalvar aortic stenosis 185500
Fetal anomalies v0.1304 ELN Zornitza Stark Publications for gene: ELN were set to
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Marked gene: EIF4A3 as ready
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Gene: eif4a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Phenotypes for gene: EIF4A3 were changed from RICHIERI-COSTA-PEREIRA SYNDROME to Robin sequence with cleft mandible and limb anomalies, MIM# 268305; Richieri-Costa-Pereira syndrome
Fetal anomalies v0.1302 EIF4A3 Zornitza Stark Publications for gene: EIF4A3 were set to
Fetal anomalies v0.1301 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Fetal anomalies v0.1301 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1301 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from vanishing white matter disease 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896
Fetal anomalies v0.1300 EIF2B3 Zornitza Stark Classified gene: EIF2B3 as Amber List (moderate evidence)
Fetal anomalies v0.1300 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1299 EIF2B3 Zornitza Stark changed review comment from: Progressive neurodegenerative disorder rather than ID.; to: Progressive neurodegenerative disorder, variable age of onset.
Fetal anomalies v0.1299 EIF2B3 Zornitza Stark edited their review of gene: EIF2B3: Changed rating: AMBER
Fetal anomalies v0.1299 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Fetal anomalies v0.1299 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1299 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from BRANCHIOOTORENAL SYNDROME TYPE 1 to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Fetal anomalies v0.1298 EYA1 Zornitza Stark Publications for gene: EYA1 were set to
Fetal anomalies v0.1297 EYA1 Zornitza Stark Mode of inheritance for gene: EYA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1296 EYA1 Belinda Chong reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867, 263442; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1296 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Fetal anomalies v0.1296 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1296 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from COCKAYNE SYNDROME TYPE A to Cockayne syndrome, type A, MIM# 216400
Fetal anomalies v0.1295 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia, type 1B 614678
Fetal anomalies v0.1293 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Fetal anomalies v0.1292 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Fetal anomalies v0.1292 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1292 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
Fetal anomalies v0.1291 FAT4 Zornitza Stark Publications for gene: FAT4 were set to
Fetal anomalies v0.1290 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Fetal anomalies v0.1290 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1290 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B; TRICHOTHIODYSTROPHY PHOTOSENSITIVE to Xeroderma pigmentosum, group B 61, MIM#0651; Trichothiodystrophy 2, photosensitive, MIM# 616390
Fetal anomalies v0.1289 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Fetal anomalies v0.1288 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Fetal anomalies v0.1288 FGF8 Zornitza Stark Gene: fgf8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1288 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia 612702 to Holoprosencephaly; MONDO:0016296
Fetal anomalies v0.1287 FGF8 Zornitza Stark Publications for gene: FGF8 were set to 20463092; 18596921; 24280688
Fetal anomalies v0.1286 FGF8 Zornitza Stark Mode of inheritance for gene: FGF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1285 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27363716, 29584859; Phenotypes: Holoprosencephaly, MONDO:0016296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Marked gene: FKBP14 as ready
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Gene: fkbp14 has been classified as Green List (High Evidence).
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Phenotypes for gene: FKBP14 were changed from EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557
Fetal anomalies v0.1284 FKBP14 Zornitza Stark Publications for gene: FKBP14 were set to
Fetal anomalies v0.1283 FKBP14 Zornitza Stark reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from BAMFORTH-LAZARUS SYNDROME to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437
Fetal anomalies v0.1282 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Fetal anomalies v0.1280 FOXF1 Zornitza Stark Publications for gene: FOXF1 were set to
Fetal anomalies v0.1279 FOXF1 Zornitza Stark Mode of inheritance for gene: FOXF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1278 EXOSC3 Belinda Chong changed review comment from: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.; to: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.
Fetal anomalies v0.1278 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Fetal anomalies v0.1278 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1278 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630
Fetal anomalies v0.1277 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1276 EXOSC3 Belinda Chong reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 25149867, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1276 FREM2 Zornitza Stark Marked gene: FREM2 as ready
Fetal anomalies v0.1276 FREM2 Zornitza Stark Gene: frem2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1276 FREM2 Zornitza Stark Phenotypes for gene: FREM2 were changed from FRASER SYNDROME to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666
Fetal anomalies v0.1275 FREM2 Zornitza Stark Publications for gene: FREM2 were set to
Fetal anomalies v0.1274 GAA Zornitza Stark Marked gene: GAA as ready
Fetal anomalies v0.1274 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Fetal anomalies v0.1274 GAA Zornitza Stark Phenotypes for gene: GAA were changed from GLYCOGEN STORAGE DISEASE TYPE II to Glycogen storage disease II MIM#232300
Fetal anomalies v0.1273 ERCC8 Belinda Chong reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661080, 21108394; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1273 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Fetal anomalies v0.1273 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1273 NPR2 Zornitza Stark Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Acromesomelic dysplasia 1, Maroteaux type (MIM#602875); Epiphyseal chondrodysplasia, Miura type (MIM#615923); Short stature with nonspecific skeletal abnormalities (MIM#616255)
Fetal anomalies v0.1272 NPR2 Zornitza Stark Publications for gene: NPR2 were set to
Fetal anomalies v0.1271 NPR2 Zornitza Stark Mode of pathogenicity for gene: NPR2 was changed from to Other
Fetal anomalies v0.1270 NPR2 Zornitza Stark Mode of inheritance for gene: NPR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1269 NPR2 Zornitza Stark Mode of inheritance for gene: NPR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1268 GALE Zornitza Stark Marked gene: GALE as ready
Fetal anomalies v0.1268 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Fetal anomalies v0.1268 GALE Zornitza Stark Phenotypes for gene: GALE were changed from EPIMERASE-DEFICIENCY GALACTOSEMIA to Galactose epimerase deficiency MIM#230350
Fetal anomalies v0.1267 GALE Zornitza Stark Publications for gene: GALE were set to
Fetal anomalies v0.1266 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Fetal anomalies v0.1266 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1266 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from GALACTOSEMIA II to Galactokinase deficiency with cataracts MIM#230200
Fetal anomalies v0.1265 GALK1 Ain Roesley edited their review of gene: GALK1: Changed rating: GREEN
Fetal anomalies v0.1265 GALK1 Zornitza Stark Publications for gene: GALK1 were set to
Fetal anomalies v0.1264 GALK1 Ain Roesley changed review comment from: There is no structural changes that can be identified in a neonate with this condition; to: Cataracts' visible on ultrasound
Fetal anomalies v0.1264 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1264 ERCC6 Belinda Chong reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516, 20456449, 9443879, 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1264 GALNS Zornitza Stark Marked gene: GALNS as ready
Fetal anomalies v0.1264 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Fetal anomalies v0.1264 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 4A to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Fetal anomalies v0.1263 GALNS Zornitza Stark Publications for gene: GALNS were set to
Fetal anomalies v0.1262 GALNS Zornitza Stark reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1262 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Fetal anomalies v0.1262 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1262 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from ATRIAL SEPTAL DEFECT TYPE 2 to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Fetal anomalies v0.1261 GATA4 Zornitza Stark Publications for gene: GATA4 were set to
Fetal anomalies v0.1260 GATA4 Zornitza Stark Mode of inheritance for gene: GATA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1259 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Fetal anomalies v0.1259 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1259 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from NEPHROTIC SYNDROME TYPE 1 to Nephrotic syndrome, type 1 (MIM#256300)
Fetal anomalies v0.1258 NPHS1 Zornitza Stark Publications for gene: NPHS1 were set to
Fetal anomalies v0.1257 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Fetal anomalies v0.1257 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1257 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from NIEMANN-PICK DISEASE, TYPE C1 to Niemann-Pick disease, type C1/ type D (MIM#257220)
Fetal anomalies v0.1256 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Fetal anomalies v0.1255 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Fetal anomalies v0.1255 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1255 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from HAJDU-CHENEY SYNDROME to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Fetal anomalies v0.1254 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Fetal anomalies v0.1253 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION to Adams-Oliver syndrome 5 (MIM#616028)
Fetal anomalies v0.1251 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Fetal anomalies v0.1250 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1249 NOG Zornitza Stark Marked gene: NOG as ready
Fetal anomalies v0.1249 NOG Zornitza Stark Gene: nog has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1249 NOG Zornitza Stark Phenotypes for gene: NOG were changed from SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES to Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Fetal anomalies v0.1248 NOG Zornitza Stark Publications for gene: NOG were set to
Fetal anomalies v0.1247 NOG Zornitza Stark Mode of inheritance for gene: NOG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1246 NOG Zornitza Stark Classified gene: NOG as Amber List (moderate evidence)
Fetal anomalies v0.1246 NOG Zornitza Stark Gene: nog has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1245 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Fetal anomalies v0.1245 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1245 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)
Fetal anomalies v0.1244 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Fetal anomalies v0.1243 GCDH Zornitza Stark Marked gene: GCDH as ready
Fetal anomalies v0.1243 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Fetal anomalies v0.1243 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from GLUTARICACIDEMIA TYPE 1 to Glutaric aciduria, type I MIM#231670
Fetal anomalies v0.1242 GCDH Zornitza Stark Publications for gene: GCDH were set to
Fetal anomalies v0.1241 FAT4 Ain Roesley reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FBXL4 Ain Roesley reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 ERCC3 Belinda Chong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Xeroderma pigmentosum, group B 61, MIM#0651, Trichothiodystrophy 2, photosensitive, MIM# 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FGF8 Ain Roesley reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301509; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia MIM#612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FKBP14 Ain Roesley reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FOXE1 Ain Roesley reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FOXF1 Ain Roesley reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FOXG1 Ain Roesley reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28661489; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FOXRED1 Ain Roesley reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FREM2 Ain Roesley reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Fetal anomalies v0.1240 SMAD2 Zornitza Stark edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Fetal anomalies v0.1240 GAA Ain Roesley reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 NPR2 Daniel Flanagan reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15146390, 31990356, 30602027, 24001744, 24057292; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type (MIM#602875), Epiphyseal chondrodysplasia, Miura type (MIM#615923), Short stature with nonspecific skeletal abnormalities (MIM#616255); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1240 GALE Ain Roesley reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21290786; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GALK1 Ain Roesley reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 5129682; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GALNS Ain Roesley reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GATA4 Ain Roesley reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1240 NPHS1 Daniel Flanagan reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577936, 17413422; Phenotypes: Nephrotic syndrome, type 1 (MIM#256300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1240 NPC1 Daniel Flanagan edited their review of gene: NPC1: Changed publications: 12408188, 9211849
Fetal anomalies v0.1240 NPC1 Daniel Flanagan reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12408188, 12408188; Phenotypes: Niemann-Pick disease, type C1/ type D (MIM#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1240 NOTCH2 Daniel Flanagan reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 GCDH Ain Roesley reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536184; Phenotypes: Glutaricaciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 NOTCH1 Daniel Flanagan reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 NOG Daniel Flanagan reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 (MIM#611377), Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 NKX3-2 Daniel Flanagan reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896; congenital cataract
Fetal anomalies v0.1239 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to 30266093; 28597716
Fetal anomalies v0.1238 EIF2B2 Zornitza Stark edited their review of gene: EIF2B2: Changed rating: GREEN
Fetal anomalies v0.1238 EIF2B2 Zornitza Stark Deleted their comment
Fetal anomalies v0.1238 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Fetal anomalies v0.1238 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1238 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407
Fetal anomalies v0.1237 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Fetal anomalies v0.1236 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1235 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Fetal anomalies v0.1235 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1235 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Fetal anomalies v0.1234 EFTUD2 Zornitza Stark Publications for gene: EFTUD2 were set to
Fetal anomalies v0.1233 EFTUD2 Zornitza Stark Mode of inheritance for gene: EFTUD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1232 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Fetal anomalies v0.1232 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1232 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME to Craniofrontonasal dysplasia, MIM# 304110; Diaphragmatic hernia
Fetal anomalies v0.1231 EFNB1 Zornitza Stark Publications for gene: EFNB1 were set to
Fetal anomalies v0.1230 CHRNB2 Zornitza Stark Marked gene: CHRNB2 as ready
Fetal anomalies v0.1230 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1230 CHRNB2 Zornitza Stark Phenotypes for gene: CHRNB2 were changed from CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375
Fetal anomalies v0.1229 CHRNB2 Zornitza Stark Publications for gene: CHRNB2 were set to
Fetal anomalies v0.1228 CHRNB2 Zornitza Stark Mode of inheritance for gene: CHRNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1227 CHRNB2 Zornitza Stark Classified gene: CHRNB2 as Red List (low evidence)
Fetal anomalies v0.1227 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1226 CHRNB2 Zornitza Stark reviewed gene: CHRNB2: Rating: RED; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1226 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Fetal anomalies v0.1226 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1226 CHRNB1 Zornitza Stark Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Fetal anomalies v0.1225 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Fetal anomalies v0.1224 CHRNB1 Zornitza Stark Classified gene: CHRNB1 as Green List (high evidence)
Fetal anomalies v0.1224 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1223 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Fetal anomalies v0.1222 CHRNA3 Zornitza Stark Publications for gene: CHRNA3 were set to
Fetal anomalies v0.1221 CHRNA3 Zornitza Stark Classified gene: CHRNA3 as Green List (high evidence)
Fetal anomalies v0.1221 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1220 CHRNA3 Zornitza Stark changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families.

Onset is in utero or early childhood.

Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.
Fetal anomalies v0.1220 CHRNA3 Zornitza Stark reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1220 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Fetal anomalies v0.1220 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Fetal anomalies v0.1220 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143
Fetal anomalies v0.1219 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Fetal anomalies v0.1218 CHD8 Zornitza Stark Classified gene: CHD8 as Amber List (moderate evidence)
Fetal anomalies v0.1218 CHD8 Zornitza Stark Gene: chd8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1217 CHD8 Zornitza Stark changed review comment from: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder.; to: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder. Macrocephaly reported of prenatal onset.
Fetal anomalies v0.1217 CHD8 Zornitza Stark edited their review of gene: CHD8: Changed rating: AMBER
Fetal anomalies v0.1217 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Fetal anomalies v0.1217 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1217 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Fetal anomalies v0.1216 CHMP1A Zornitza Stark Classified gene: CHMP1A as Green List (high evidence)
Fetal anomalies v0.1216 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1215 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Fetal anomalies v0.1215 CHD8 Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1215 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from AUTISM to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Fetal anomalies v0.1214 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Fetal anomalies v0.1213 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1212 CHD8 Zornitza Stark Classified gene: CHD8 as Red List (low evidence)
Fetal anomalies v0.1212 CHD8 Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1211 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: RED; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1211 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Fetal anomalies v0.1211 CHD3 Zornitza Stark Gene: chd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1211 CHD3 Zornitza Stark Phenotypes for gene: CHD3 were changed from Apraxia of speech to Snijders Blok-Campeau syndrome, MIM#618205
Fetal anomalies v0.1210 CHD3 Zornitza Stark Publications for gene: CHD3 were set to
Fetal anomalies v0.1209 CHD3 Zornitza Stark Mode of inheritance for gene: CHD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1208 CHD3 Zornitza Stark changed review comment from: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.
Sources: Expert list; to: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.

Macrocephaly in most individuals, otherwise no significant association with congenital anomalies.
Sources: Expert list
Fetal anomalies v0.1208 CHD3 Zornitza Stark edited their review of gene: CHD3: Changed rating: AMBER
Fetal anomalies v0.1208 CFL2 Zornitza Stark Marked gene: CFL2 as ready
Fetal anomalies v0.1208 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1208 CFL2 Zornitza Stark Publications for gene: CFL2 were set to
Fetal anomalies v0.1207 CFL2 Zornitza Stark Classified gene: CFL2 as Red List (low evidence)
Fetal anomalies v0.1207 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1206 CFL2 Zornitza Stark reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: 17160903, 22560515, 32697999, 29457652, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: None
Fetal anomalies v0.1206 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Fetal anomalies v0.1206 CERS3 Zornitza Stark Gene: cers3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1206 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Fetal anomalies v0.1205 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Fetal anomalies v0.1204 CERS3 Zornitza Stark Classified gene: CERS3 as Red List (low evidence)
Fetal anomalies v0.1204 CERS3 Zornitza Stark Gene: cers3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1203 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: RED; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1203 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Fetal anomalies v0.1203 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1203 CEP63 Zornitza Stark Phenotypes for gene: CEP63 were changed from ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871 to Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871
Fetal anomalies v0.1202 CEP63 Zornitza Stark Publications for gene: CEP63 were set to
Fetal anomalies v0.1201 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Fetal anomalies v0.1201 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Fetal anomalies v0.1201 CEP55 Zornitza Stark Publications for gene: CEP55 were set to 28295209; 28264986; 30622327
Fetal anomalies v0.1200 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Fetal anomalies v0.1200 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Fetal anomalies v0.1199 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Fetal anomalies v0.1199 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Fetal anomalies v0.1199 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849 to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849; Microcephalic primordial dwarfism
Fetal anomalies v0.1198 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Fetal anomalies v0.1197 CEP135 Zornitza Stark Classified gene: CEP135 as Green List (high evidence)
Fetal anomalies v0.1197 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Fetal anomalies v0.1196 CEP135 Zornitza Stark commented on gene: CEP135: At least 3 families reported.
Fetal anomalies v0.1196 CEP135 Zornitza Stark edited their review of gene: CEP135: Changed publications: 30214071, 22521416, 26657937
Fetal anomalies v0.1196 CENPF Zornitza Stark Marked gene: CENPF as ready
Fetal anomalies v0.1196 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Fetal anomalies v0.1196 CENPF Zornitza Stark Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605 to Stromme syndrome, MIM#243605
Fetal anomalies v0.1195 CENPF Zornitza Stark Publications for gene: CENPF were set to 25564561; PMID: 26820108
Fetal anomalies v0.1194 CENPF Zornitza Stark Classified gene: CENPF as Green List (high evidence)
Fetal anomalies v0.1194 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Fetal anomalies v0.1193 CENPF Zornitza Stark reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: 25564561, 28407396, 26820108; Phenotypes: Stromme syndrome (MIM#243605); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1193 CELSR1 Zornitza Stark Marked gene: CELSR1 as ready
Fetal anomalies v0.1193 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1193 CELSR1 Zornitza Stark Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, OMIM:619319 to Lymphatic malformation 9, MIM# 619319
Fetal anomalies v0.1192 CELSR1 Zornitza Stark Publications for gene: CELSR1 were set to
Fetal anomalies v0.1191 CELSR1 Zornitza Stark Mode of inheritance for gene: CELSR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1190 CELSR1 Zornitza Stark Classified gene: CELSR1 as Red List (low evidence)
Fetal anomalies v0.1190 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1189 CELSR1 Zornitza Stark reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: 31215153, 31403174, 26855770; Phenotypes: Lymphatic malformation 9, MIM# 619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1189 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Fetal anomalies v0.1189 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1189 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Fetal anomalies v0.1188 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Fetal anomalies v0.1188 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1187 CD96 Zornitza Stark Marked gene: CD96 as ready
Fetal anomalies v0.1187 CD96 Zornitza Stark Gene: cd96 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1187 CD96 Zornitza Stark Phenotypes for gene: CD96 were changed from C SYNDROME to C syndrome, MIM#211750
Fetal anomalies v0.1186 CD96 Zornitza Stark Publications for gene: CD96 were set to
Fetal anomalies v0.1185 CD96 Zornitza Stark Classified gene: CD96 as Red List (low evidence)
Fetal anomalies v0.1185 CD96 Zornitza Stark Gene: cd96 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1184 CD96 Zornitza Stark edited their review of gene: CD96: Changed rating: RED
Fetal anomalies v0.1184 CD96 Zornitza Stark Mode of inheritance for gene: CD96 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1183 CD96 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.; to: The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.
Fetal anomalies v0.1183 CD96 Zornitza Stark edited their review of gene: CD96: Changed rating: AMBER
Fetal anomalies v0.1183 CD96 Zornitza Stark edited their review of gene: CD96: Changed rating: GREEN
Fetal anomalies v0.1183 CD151 Zornitza Stark Marked gene: CD151 as ready
Fetal anomalies v0.1183 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1183 CD151 Zornitza Stark Phenotypes for gene: CD151 were changed from NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Fetal anomalies v0.1182 CD151 Zornitza Stark Publications for gene: CD151 were set to
Fetal anomalies v0.1181 CD151 Zornitza Stark Classified gene: CD151 as Red List (low evidence)
Fetal anomalies v0.1181 CD151 Zornitza Stark Gene: cd151 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1180 CD151 Zornitza Stark reviewed gene: CD151: Rating: RED; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Fetal anomalies v0.1179 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Classified gene: CCDC8 as Green List (high evidence)
Fetal anomalies v0.1177 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1176 CCDC8 Zornitza Stark changed review comment from: Intellect typically normal; to: 5 unrelated individuals described with the condition; two different homozygous variants described in three individuals. IUGR.
Fetal anomalies v0.1176 CCDC8 Zornitza Stark edited their review of gene: CCDC8: Changed rating: GREEN
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Marked gene: CCDC78 as ready
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES to Centronuclear myopathy 4, MIM#614807
Fetal anomalies v0.1175 CCDC78 Zornitza Stark Publications for gene: CCDC78 were set to
Fetal anomalies v0.1174 CCDC78 Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1173 CCDC78 Zornitza Stark Classified gene: CCDC78 as Red List (low evidence)
Fetal anomalies v0.1173 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1172 CCDC78 Zornitza Stark changed review comment from: Single family reported in the literature only. Mild intellectual disability was part of the phenotype.; to: Single family reported in the literature only. Onset in early childhood.
Fetal anomalies v0.1172 CCDC78 Zornitza Stark edited their review of gene: CCDC78: Changed rating: RED
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Fetal anomalies v0.1172 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, MIM# 300963
Fetal anomalies v0.1171 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Fetal anomalies v0.1170 CCDC22 Zornitza Stark Classified gene: CCDC22 as Green List (high evidence)
Fetal anomalies v0.1170 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Fetal anomalies v0.1169 CCDC22 Zornitza Stark edited their review of gene: CCDC22: Changed rating: GREEN
Fetal anomalies v0.1169 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: ; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Marked gene: CCDC151 as ready
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Publications for gene: CCDC151 were set to
Fetal anomalies v0.1168 CCDC151 Zornitza Stark Classified gene: CCDC151 as Green List (high evidence)
Fetal anomalies v0.1168 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Fetal anomalies v0.1167 CASR Zornitza Stark Marked gene: CASR as ready
Fetal anomalies v0.1167 CASR Zornitza Stark Gene: casr has been classified as Red List (Low Evidence).
Fetal anomalies v0.1167 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200 to Hyperparathyroidism, neonatal, MIM# 239200
Fetal anomalies v0.1166 CASR Zornitza Stark Classified gene: CASR as Red List (low evidence)
Fetal anomalies v0.1166 CASR Zornitza Stark Gene: casr has been classified as Red List (Low Evidence).
Fetal anomalies v0.1165 CASR Zornitza Stark reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1165 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Fetal anomalies v0.1165 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1165 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Epileptic encephalopathy with complex movement disorder and regression to Combined oxidative phosphorylation deficiency 27, MIM#616672
Fetal anomalies v0.1164 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Fetal anomalies v0.1163 CARS2 Zornitza Stark Classified gene: CARS2 as Red List (low evidence)
Fetal anomalies v0.1163 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1162 CARS2 Zornitza Stark changed review comment from: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated individuals described with this mitochondrial disorder, primarily neurological involvement, post-natal onset.
Sources: Expert list
Fetal anomalies v0.1162 CARS2 Zornitza Stark edited their review of gene: CARS2: Changed rating: RED
Fetal anomalies v0.1162 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Fetal anomalies v0.1162 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1162 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 to Desbuquois dysplasia 1, MIM# 251450
Fetal anomalies v0.1161 CANT1 Zornitza Stark Classified gene: CANT1 as Green List (high evidence)
Fetal anomalies v0.1161 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1160 CANT1 Zornitza Stark changed review comment from: Severe skeletal dysplasia, intellectual disability not a core feature of the phenotype (described in some); to: Severe skeletal dysplasia, prenatal onset of features.
Fetal anomalies v0.1160 CANT1 Zornitza Stark edited their review of gene: CANT1: Changed rating: GREEN
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Fetal anomalies v0.1159 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Fetal anomalies v0.1158 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1157 CAMTA1 Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence)
Fetal anomalies v0.1157 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1156 CAMTA1 Zornitza Stark changed review comment from: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.; to: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.

Congenital anomalies are not a feature, clinical presentation is typically post-natal.
Fetal anomalies v0.1156 CAMTA1 Zornitza Stark edited their review of gene: CAMTA1: Changed rating: RED
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Gene: camk2b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 54, MIM# 617799
Fetal anomalies v0.1155 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Fetal anomalies v0.1154 CAMK2B Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported. One with significant microcephaly, otherwise congenital anomalies are not specifically reported.
Fetal anomalies v0.1154 CAMK2B Zornitza Stark edited their review of gene: CAMK2B: Changed rating: AMBER
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Gene: camk2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Fetal anomalies v0.1153 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Fetal anomalies v0.1152 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1151 CAMK2A Zornitza Stark Classified gene: CAMK2A as Red List (low evidence)
Fetal anomalies v0.1151 CAMK2A Zornitza Stark Gene: camk2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1150 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: RED; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Publications for gene: CACNA1G were set to
Fetal anomalies v0.1149 CACNA1G Zornitza Stark Mode of pathogenicity for gene: CACNA1G was changed from to Other
Fetal anomalies v0.1148 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1147 CACNA1G Zornitza Stark edited their review of gene: CACNA1G: Added comment: Microcephaly in some.; Changed rating: AMBER
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Fetal anomalies v0.1146 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Fetal anomalies v0.1145 CACNA1D Zornitza Stark Mode of pathogenicity for gene: CACNA1D was changed from to Other
Fetal anomalies v0.1144 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1143 CACNA1D Zornitza Stark Classified gene: CACNA1D as Green List (high evidence)
Fetal anomalies v0.1143 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Fetal anomalies v0.1142 CACNA1D Zornitza Stark changed review comment from: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions.; to: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions, cardiac defects and cardiomyopathy.
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from EPILEPTIC ENCEPHALOPATHY to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086
Fetal anomalies v0.1141 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1140 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
Fetal anomalies v0.1140 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1139 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1139 CA5A Zornitza Stark Marked gene: CA5A as ready
Fetal anomalies v0.1139 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1139 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Fetal anomalies v0.1138 CA5A Zornitza Stark Publications for gene: CA5A were set to
Fetal anomalies v0.1137 CA5A Zornitza Stark Classified gene: CA5A as Red List (low evidence)
Fetal anomalies v0.1137 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1136 CA5A Zornitza Stark changed review comment from: Episodic metabolic decompensation rather than true ID, majority have had normal neurological outcome with appropriate treatment of acute crises.; to: Episodic metabolic decompensation, majority have had normal neurological outcome with appropriate treatment of acute crises.
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413 to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Fetal anomalies v0.1135 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Fetal anomalies v0.1134 C2CD3 Zornitza Stark Classified gene: C2CD3 as Green List (high evidence)
Fetal anomalies v0.1134 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Fetal anomalies v0.1132 C21orf59 Zornitza Stark Classified gene: C21orf59 as Green List (high evidence)
Fetal anomalies v0.1132 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Fetal anomalies v0.1131 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Fetal anomalies v0.1131 C21orf59 Zornitza Stark changed review comment from: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population; to: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population.

Laterality defects in about half.
Fetal anomalies v0.1131 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Fetal anomalies v0.1131 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1130 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Fetal anomalies v0.1129 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Fetal anomalies v0.1129 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1128 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1128 C12orf57 Zornitza Stark Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, MIM#218340
Fetal anomalies v0.1127 C12orf57 Zornitza Stark Classified gene: C12orf57 as Green List (high evidence)
Fetal anomalies v0.1127 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1126 C12orf57 Zornitza Stark changed review comment from: Ocular coloboma is part of the phenotype.
Sources: Expert list; to: Talipes and hip dislocation are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.1126 BPTF Zornitza Stark Marked gene: BPTF as ready
Fetal anomalies v0.1126 BPTF Zornitza Stark Gene: bptf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1126 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Fetal anomalies v0.1125 BPTF Zornitza Stark Publications for gene: BPTF were set to
Fetal anomalies v0.1124 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1123 BPTF Zornitza Stark changed review comment from: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.; to: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.

The onset of microcephaly is post-natal, most of the other physical features are relatively mild, unclear if would be identifiable antenatally.
Fetal anomalies v0.1123 BPTF Zornitza Stark edited their review of gene: BPTF: Changed rating: AMBER
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Gene: bola3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Fetal anomalies v0.1122 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Fetal anomalies v0.1121 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1121 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Fetal anomalies v0.1121 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1121 BNC2 Zornitza Stark Phenotypes for gene: BNC2 were changed from Lower urinary tract obstruction, congenital, 618612 to Lower urinary tract obstruction, congenital, MIM #618612
Fetal anomalies v0.1120 BNC2 Zornitza Stark Publications for gene: BNC2 were set to
Fetal anomalies v0.1119 BNC2 Zornitza Stark Mode of inheritance for gene: BNC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1118 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Fetal anomalies v0.1118 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1117 BNC2 Zornitza Stark reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31656805, 31051115; Phenotypes: Lower urinary tract obstruction, congenital, MIM #618612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from HERMANSKY-PUDLAK SYNDROME 9 to Hermansky-Pudlak syndrome 9, MIM# 614171
Fetal anomalies v0.1116 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Fetal anomalies v0.1115 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Red List (low evidence)
Fetal anomalies v0.1115 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation for HPS in general is post-natal.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation of HPS in general is post-natal.
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: None
Fetal anomalies v0.1114 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Fetal anomalies v0.1114 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1114 BCL9L Zornitza Stark Phenotypes for gene: BCL9L were changed from Heterotaxy to Heterotaxy; Congenital Heart Disease
Fetal anomalies v0.1113 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047
Fetal anomalies v0.1112 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Fetal anomalies v0.1112 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1112 BANF1 Zornitza Stark Phenotypes for gene: BANF1 were changed from NESTOR-GUILLERMO PROGERIA SYNDROME to Nestor-Guillermo progeria syndrome, MIM# 614008
Fetal anomalies v0.1111 BANF1 Zornitza Stark Publications for gene: BANF1 were set to
Fetal anomalies v0.1110 BANF1 Zornitza Stark Classified gene: BANF1 as Red List (low evidence)
Fetal anomalies v0.1110 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1109 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: RED; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1109 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Fetal anomalies v0.1109 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1109 B9D2 Zornitza Stark Classified gene: B9D2 as Green List (high evidence)
Fetal anomalies v0.1109 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1108 WLS Zornitza Stark Marked gene: WLS as ready
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1108 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Fetal anomalies v0.1108 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Fetal anomalies v0.1107 WLS Zornitza Stark gene: WLS was added
gene: WLS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to 34587386
Phenotypes for gene: WLS were set to Zaki syndrome, MIM#619648
Review for gene: WLS was set to GREEN
Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Fetal anomalies v0.1106 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Fetal anomalies v0.1106 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1106 B9D1 Zornitza Stark Publications for gene: B9D1 were set to 32622957; 24886560
Fetal anomalies v0.1105 B9D1 Zornitza Stark Classified gene: B9D1 as Green List (high evidence)
Fetal anomalies v0.1105 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.; to: PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER; to: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed publications: 24886560, 21493627, 25920555, 34338422, 21763481
Fetal anomalies v0.1104 B9D1 Zornitza Stark edited their review of gene: B9D1: Added comment: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model
PMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)
PMID: 24886560 - 2 Joubert syndrome cases
PMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; Changed rating: GREEN
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23877401; 23359570
Fetal anomalies v0.1103 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Fetal anomalies v0.1103 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Fetal anomalies v0.1101 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Fetal anomalies v0.1100 B3GALNT2 Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence)
Fetal anomalies v0.1100 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1099 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Fetal anomalies v0.1099 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Fetal anomalies v0.1099 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from ABCD SYNDROME to Waardenburg syndrome, type 4A, MIM#277580; ABCD syndrome, MIM# 600501
Fetal anomalies v0.1098 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1097 EDNRB Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Well established gene-disease association. Hirschsprung's disease and decreased myenteric and submucosal ganglia in the bowel.
Fetal anomalies v0.1097 EDNRB Zornitza Stark edited their review of gene: EDNRB: Changed rating: GREEN
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Gene: ecel1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Phenotypes for gene: ECEL1 were changed from DISTAL ARTHROGRYPOSIS TYPE 5D to Arthrogryposis, distal, type 5D, MIM# 615065
Fetal anomalies v0.1096 ECEL1 Zornitza Stark Publications for gene: ECEL1 were set to
Fetal anomalies v0.1095 EBP Zornitza Stark Marked gene: EBP as ready
Fetal anomalies v0.1095 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Fetal anomalies v0.1095 EBP Zornitza Stark Phenotypes for gene: EBP were changed from CHONDRODYSPLASIA PUNCTATA 2, X-LINKED to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Fetal anomalies v0.1094 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Fetal anomalies v0.1094 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1094 EBF3 Zornitza Stark Phenotypes for gene: EBF3 were changed from hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330 to Hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330
Fetal anomalies v0.1093 EBF3 Zornitza Stark Publications for gene: EBF3 were set to
Fetal anomalies v0.1092 EBF3 Zornitza Stark Mode of inheritance for gene: EBF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1091 EBF3 Zornitza Stark changed review comment from: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.; to: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Microcephaly also reported.
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 to Mental retardation, autosomal dominant 7, MIM# 614104
Fetal anomalies v0.1090 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Fetal anomalies v0.1089 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1088 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Fetal anomalies v0.1087 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mental retardation, autosomal dominant 13, MIM# 614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600
Fetal anomalies v0.1085 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Fetal anomalies v0.1084 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1083 DYM Zornitza Stark Marked gene: DYM as ready
Fetal anomalies v0.1083 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Fetal anomalies v0.1083 DYM Zornitza Stark Phenotypes for gene: DYM were changed from SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800
Fetal anomalies v0.1082 DYM Zornitza Stark edited their review of gene: DYM: Changed phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800
Fetal anomalies v0.1082 DYM Zornitza Stark Publications for gene: DYM were set to
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease.

The two conditions likely represent a spectrum rather than two distinct disorders.
Fetal anomalies v0.1081 DYM Zornitza Stark edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731, 19005420
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.
Fetal anomalies v0.1081 DYM Zornitza Stark Deleted their comment
Fetal anomalies v0.1081 DYM Zornitza Stark edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731
Fetal anomalies v0.1081 DYM Zornitza Stark commented on gene: DYM: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests
Fetal anomalies v0.1081 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Fetal anomalies v0.1081 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1081 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ie, 608799
Fetal anomalies v0.1080 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Fetal anomalies v0.1079 DPM1 Zornitza Stark changed review comment from: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.; to: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.

Contractures also reported.
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1078 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078; Changed phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Fetal anomalies v0.1076 DOLK Zornitza Stark Marked gene: DOLK as ready
Fetal anomalies v0.1076 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1076 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Fetal anomalies v0.1075 DOLK Zornitza Stark Publications for gene: DOLK were set to 28816422
Fetal anomalies v0.1074 DOLK Zornitza Stark Mode of pathogenicity for gene: DOLK was changed from Other to None
Fetal anomalies v0.1073 DOLK Zornitza Stark Classified gene: DOLK as Amber List (moderate evidence)
Fetal anomalies v0.1073 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1072 DOLK Zornitza Stark edited their review of gene: DOLK: Added comment: Microcephaly is acquired, and DCM described in early childhood. Typical presentation is with seizures and hypotonia.; Changed rating: AMBER
Fetal anomalies v0.1072 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Fetal anomalies v0.1072 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Fetal anomalies v0.1072 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389 to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Fetal anomalies v0.1071 DOK7 Zornitza Stark Publications for gene: DOK7 were set to 30266093
Fetal anomalies v0.1070 DOK7 Zornitza Stark Deleted their comment
Fetal anomalies v0.1070 DOK7 Zornitza Stark edited their review of gene: DOK7: Added comment: Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404.

Association with FADS: Two families reported with this phenotype, severe end of the spectrum for DOK7-related disorders.; Changed rating: GREEN; Changed publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Changed phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389
Fetal anomalies v0.1070 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Fetal anomalies v0.1069 DOCK6 Zornitza Stark edited their review of gene: DOCK6: Changed publications: 21820096, 23522784, 25132448, 25824905
Fetal anomalies v0.1069 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID. Transverse limb defects.; to: Variable brain involvement, including ID. Transverse limb defects.

More than 10 unrelated families reported.
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from ADAMS-OLIVER SYNDROME 2 to Adams-Oliver syndrome 2, MIM#614219
Fetal anomalies v0.1068 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID.; to: Variable brain involvement, including ID. Transverse limb defects.
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724
Fetal anomalies v0.1067 DNMT3A Zornitza Stark Publications for gene: DNMT3A were set to
Fetal anomalies v0.1066 DNMT3A Zornitza Stark Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia 244400 to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Fetal anomalies v0.1064 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from Motile Cilia Defects and Situs Inversus to Ciliary dyskinesia, primary, 40, MIM# 618300
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Heterotaxy
Fetal anomalies v0.1061 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Fetal anomalies v0.1060 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Fetal anomalies v0.1060 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1060 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D; TRICHOTHIODYSTROPHY PHOTOSENSITIVE; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553
Fetal anomalies v0.1059 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Fetal anomalies v0.1058 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1058 NEK10 Zornitza Stark Marked gene: NEK10 as ready
Fetal anomalies v0.1058 NEK10 Zornitza Stark Gene: nek10 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1058 NEK10 Zornitza Stark Classified gene: NEK10 as Red List (low evidence)
Fetal anomalies v0.1058 NEK10 Zornitza Stark Gene: nek10 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1057 GFAP Zornitza Stark Marked gene: GFAP as ready
Fetal anomalies v0.1057 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Fetal anomalies v0.1057 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from ALEXANDER DISEASE to Alexander disease MIM#203450
Fetal anomalies v0.1056 GFAP Zornitza Stark Publications for gene: GFAP were set to
Fetal anomalies v0.1055 GFAP Zornitza Stark Mode of inheritance for gene: GFAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1054 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1053 NFIX Zornitza Stark Marked gene: NFIX as ready
Fetal anomalies v0.1053 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Fetal anomalies v0.1053 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535
Fetal anomalies v0.1052 NFIX Zornitza Stark Publications for gene: NFIX were set to
Fetal anomalies v0.1051 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1051 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Fetal anomalies v0.1051 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1051 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from SIALIDOSIS to Sialidosis, type I, type II (MIM#256550)
Fetal anomalies v0.1050 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Fetal anomalies v0.1049 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Fetal anomalies v0.1049 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1049 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 to Combined oxidative phosphorylation deficiency 1 MIM#609060
Fetal anomalies v0.1048 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Fetal anomalies v0.1047 NECTIN4 Zornitza Stark Marked gene: NECTIN4 as ready
Fetal anomalies v0.1047 NECTIN4 Zornitza Stark Gene: nectin4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1047 NECTIN4 Zornitza Stark Phenotypes for gene: NECTIN4 were changed from ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 to Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573)
Fetal anomalies v0.1046 NECTIN4 Zornitza Stark Publications for gene: NECTIN4 were set to
Fetal anomalies v0.1045 GJA3 Zornitza Stark Classified gene: GJA3 as Green List (high evidence)
Fetal anomalies v0.1045 GJA3 Zornitza Stark Gene: gja3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1044 GJA3 Zornitza Stark reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1044 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Fetal anomalies v0.1044 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1044 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME to Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812
Fetal anomalies v0.1043 WNT4 Zornitza Stark Publications for gene: WNT4 were set to
Fetal anomalies v0.1042 WNT4 Zornitza Stark reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810, 18179883; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330), SERKAL syndrome, OMIM #611812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1042 WWOX Zornitza Stark Tag SV/CNV tag was added to gene: WWOX.
Fetal anomalies v0.1042 WWOX Zornitza Stark Marked gene: WWOX as ready
Fetal anomalies v0.1042 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Fetal anomalies v0.1042 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 to Developmental and epileptic encephalopathy 28, MIM# 616211
Fetal anomalies v0.1041 WWOX Zornitza Stark Publications for gene: WWOX were set to
Fetal anomalies v0.1040 WWOX Zornitza Stark Classified gene: WWOX as Green List (high evidence)
Fetal anomalies v0.1040 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Fetal anomalies v0.1039 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1039 ZNF750 Zornitza Stark Marked gene: ZNF750 as ready
Fetal anomalies v0.1039 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1039 ZNF750 Zornitza Stark Phenotypes for gene: ZNF750 were changed from SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS to Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227
Fetal anomalies v0.1038 ZNF750 Zornitza Stark Publications for gene: ZNF750 were set to
Fetal anomalies v0.1037 ZNF750 Zornitza Stark Classified gene: ZNF750 as Red List (low evidence)
Fetal anomalies v0.1037 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1036 ZNF750 Zornitza Stark reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Classified gene: SCNN1G as Amber List (moderate evidence)
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Classified gene: MCIDAS as Green List (high evidence)
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Fetal anomalies v0.1034 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Fetal anomalies v0.1034 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1034 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT to Multiple synostoses syndrome 4 (MIM#617898)
Fetal anomalies v0.1033 GDF6 Zornitza Stark Mode of pathogenicity for gene: GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.1032 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Fetal anomalies v0.1032 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1032 GLA Zornitza Stark Marked gene: GLA as ready
Fetal anomalies v0.1032 GLA Zornitza Stark Gene: gla has been classified as Red List (Low Evidence).
Fetal anomalies v0.1032 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2 to Leukodystrophy, hypomyelinating, 2 MIM#608804
Fetal anomalies v0.1031 GJC2 Zornitza Stark Publications for gene: GJC2 were set to
Fetal anomalies v0.1030 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1029 GJA3 Seb Lunke Marked gene: GJA3 as ready
Fetal anomalies v0.1029 GJA3 Seb Lunke Gene: gja3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1029 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1029 GJA3 Seb Lunke Phenotypes for gene: GJA3 were changed from CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 to Cataract 14, multiple types MIM#601885
Fetal anomalies v0.1028 GJA3 Seb Lunke Mode of inheritance for gene: GJA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1027 GJA3 Seb Lunke Classified gene: GJA3 as Red List (low evidence)
Fetal anomalies v0.1027 GJA3 Seb Lunke Gene: gja3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1026 EPHB4 Seb Lunke Marked gene: EPHB4 as ready
Fetal anomalies v0.1026 EPHB4 Seb Lunke Gene: ephb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1026 EPHB4 Seb Lunke Phenotypes for gene: EPHB4 were changed from hydrops fetalis gene to Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD; hydrops fetalis
Fetal anomalies v0.1025 EPHB4 Seb Lunke Publications for gene: EPHB4 were set to 27400125
Fetal anomalies v0.1024 EPHB4 Seb Lunke Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1023 DNAJB13 Zornitza Stark Marked gene: DNAJB13 as ready
Fetal anomalies v0.1023 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1023 GLA Zornitza Stark Publications for gene: GLA were set to
Fetal anomalies v0.1022 GLA Zornitza Stark Classified gene: GLA as Red List (low evidence)
Fetal anomalies v0.1022 GLA Zornitza Stark Gene: gla has been classified as Red List (Low Evidence).
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Marked gene: GAS2L2 as ready
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Gene: gas2l2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Classified gene: GAS2L2 as Red List (low evidence)
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Gene: gas2l2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1020 NBAS Seb Lunke Marked gene: NBAS as ready
Fetal anomalies v0.1020 NBAS Seb Lunke Gene: nbas has been classified as Green List (High Evidence).
Fetal anomalies v0.1020 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Red List (low evidence)
Fetal anomalies v0.1020 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1019 NBAS Seb Lunke Phenotypes for gene: NBAS were changed from ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD to Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800); bone fragility; developmental delay; immunodeficiency; autism
Fetal anomalies v0.1018 NBAS Seb Lunke Publications for gene: NBAS were set to
Fetal anomalies v0.1017 DNAH8 Seb Lunke Marked gene: DNAH8 as ready
Fetal anomalies v0.1017 DNAH8 Seb Lunke Gene: dnah8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1017 DNAH8 Seb Lunke Phenotypes for gene: DNAH8 were changed from Spermatogenic failure 46 - OMIM# 619095; primary ciliary dyskinesia to primary ciliary dyskinesia
Fetal anomalies v0.1016 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Fetal anomalies v0.1016 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1016 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Fetal anomalies v0.1015 DNAH8 Seb Lunke Classified gene: DNAH8 as Red List (low evidence)
Fetal anomalies v0.1015 DNAH8 Seb Lunke Gene: dnah8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1014 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Fetal anomalies v0.1014 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1014 DNAH6 Zornitza Stark Phenotypes for gene: DNAH6 were changed from heterotaxy; azoospermia to Heterotaxy
Fetal anomalies v0.1013 DNAH6 Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence)
Fetal anomalies v0.1013 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1012 DNAH1 Seb Lunke Marked gene: DNAH1 as ready
Fetal anomalies v0.1012 DNAH1 Seb Lunke Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1012 DNAH1 Seb Lunke Phenotypes for gene: DNAH1 were changed from Situs inversus; primary ciliary dyskinesia; infertility to Situs inversus; primary ciliary dyskinesia, MIM#617577; infertility, MIM#617576
Fetal anomalies v0.1011 DNAH1 Seb Lunke Classified gene: DNAH1 as Amber List (moderate evidence)
Fetal anomalies v0.1011 DNAH1 Seb Lunke Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1010 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Fetal anomalies v0.1009 GLDC Zornitza Stark Marked gene: GLDC as ready
Fetal anomalies v0.1009 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1009 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from GLDC-RELATED GLYCINE ENCEPHALOPATHY to Glycine encephalopathy (MIM#605899)
Fetal anomalies v0.1008 GLI2 Seb Lunke Marked gene: GLI2 as ready
Fetal anomalies v0.1008 GLI2 Seb Lunke Gene: gli2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1008 GLDC Zornitza Stark Publications for gene: GLDC were set to
Fetal anomalies v0.1007 GLI2 Seb Lunke Phenotypes for gene: GLI2 were changed from GLI2-RELATED HOLOPROSENCEPHALY to Culler-Jones syndrome, MIM#615849; Holoprosencephaly 9, MIM# 61082
Fetal anomalies v0.1006 GLDC Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence)
Fetal anomalies v0.1006 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1005 GLI2 Seb Lunke Mode of inheritance for gene: GLI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1004 GLI2 Seb Lunke Publications for gene: GLI2 were set to
Fetal anomalies v0.1003 EP300 Zornitza Stark Marked gene: EP300 as ready
Fetal anomalies v0.1003 EP300 Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence).
Fetal anomalies v0.1003 EP300 Zornitza Stark Phenotypes for gene: EP300 were changed from RUBINSTEIN-TAYBI SYNDROME TYPE 2 to Rubinstein-Taybi syndrome 2, MIM# 613684; Menke-Hennekam syndrome , MIM#2 618333
Fetal anomalies v0.1002 EP300 Zornitza Stark Publications for gene: EP300 were set to
Fetal anomalies v0.1001 EP300 Zornitza Stark Mode of inheritance for gene: EP300 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1000 CFAP57 Zornitza Stark Marked gene: CFAP57 as ready
Fetal anomalies v0.1000 CFAP57 Zornitza Stark Gene: cfap57 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1000 NANS Zornitza Stark Marked gene: NANS as ready
Fetal anomalies v0.1000 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Fetal anomalies v0.1000 NANS Zornitza Stark Phenotypes for gene: NANS were changed from infantile-onset severe developmental delay and skeletal dysplasia to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)
Fetal anomalies v0.999 NANS Zornitza Stark Publications for gene: NANS were set to
Fetal anomalies v0.998 NALCN Seb Lunke Marked gene: NALCN as ready
Fetal anomalies v0.998 NALCN Seb Lunke Gene: nalcn has been classified as Green List (High Evidence).
Fetal anomalies v0.998 NALCN Seb Lunke Phenotypes for gene: NALCN were changed from HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY to Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266); Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Fetal anomalies v0.997 NALCN Seb Lunke Publications for gene: NALCN were set to
Fetal anomalies v0.996 CFAP57 Zornitza Stark Classified gene: CFAP57 as Red List (low evidence)
Fetal anomalies v0.996 CFAP57 Zornitza Stark Gene: cfap57 has been classified as Red List (Low Evidence).
Fetal anomalies v0.995 NAGA Seb Lunke Marked gene: NAGA as ready
Fetal anomalies v0.995 NAGA Seb Lunke Gene: naga has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.995 CFAP43 Seb Lunke Marked gene: CFAP43 as ready
Fetal anomalies v0.995 CFAP43 Seb Lunke Gene: cfap43 has been classified as Red List (Low Evidence).
Fetal anomalies v0.995 CFAP43 Seb Lunke Classified gene: CFAP43 as Red List (low evidence)
Fetal anomalies v0.995 CFAP43 Seb Lunke Gene: cfap43 has been classified as Red List (Low Evidence).
Fetal anomalies v0.994 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Fetal anomalies v0.994 GNAI3 Zornitza Stark Gene: gnai3 has been classified as Green List (High Evidence).
Fetal anomalies v0.994 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 1, OMIM #602483
Fetal anomalies v0.993 GNAI3 Zornitza Stark Publications for gene: GNAI3 were set to
Fetal anomalies v0.992 GLUL Zornitza Stark Marked gene: GLUL as ready
Fetal anomalies v0.992 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Fetal anomalies v0.992 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY to Glutamine deficiency, congenital MIM#610015
Fetal anomalies v0.991 GLUL Zornitza Stark Publications for gene: GLUL were set to
Fetal anomalies v0.990 GLUL Zornitza Stark reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.990 NAGA Seb Lunke Phenotypes for gene: NAGA were changed from SCHINDLER DISEASE; KANZAKI DISEASE to Kanzaki disease (MIM# 609242); Schindler disease, type I and type II (MIM#609241); alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779)
Fetal anomalies v0.989 NAGA Seb Lunke Publications for gene: NAGA were set to
Fetal anomalies v0.988 NAGA Seb Lunke Classified gene: NAGA as Amber List (moderate evidence)
Fetal anomalies v0.988 NAGA Seb Lunke Added comment: Comment on list classification: Only one description of microcephaly
Fetal anomalies v0.988 NAGA Seb Lunke Gene: naga has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.987 GNAI3 Zornitza Stark Mode of inheritance for gene: GNAI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.986 BRWD1 Zornitza Stark Marked gene: BRWD1 as ready
Fetal anomalies v0.986 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.986 BRWD1 Zornitza Stark Classified gene: BRWD1 as Red List (low evidence)
Fetal anomalies v0.986 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.985 BRWD1 Zornitza Stark reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: None
Fetal anomalies v0.985 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.984 GNPAT Zornitza Stark Marked gene: GNPAT as ready
Fetal anomalies v0.984 GNPAT Zornitza Stark Gene: gnpat has been classified as Green List (High Evidence).
Fetal anomalies v0.984 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112
Fetal anomalies v0.983 GNPAT Zornitza Stark Publications for gene: GNPAT were set to
Fetal anomalies v0.982 SCNN1G Krithika Murali gene: SCNN1G was added
gene: SCNN1G was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 8640238; 11231969; 31522814; 7633160
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I - MIM#264350
Review for gene: SCNN1G was set to AMBER
Added comment: PMID 8640238 - same 3′ splice site mutation in SCNN1G identified in 3 unrelated families from the Indian subcontinent presenting with severe generalised PHA ?founder mutation

PMID 11231969 - compound het in Japanese child diagnosed as neonate

PMID 31522814 - homozygous variant identified in neonate presenting with nephropathy

PMID 7633160 (1995) - PHA reported as likely cause of severe polyhydramnios in 5 patients from 3 unrelated families - not genotyped.

SCNN1G related PHA rare diagnosis, possible to present as severe polyhydramnios. Early diagnosis beneficial as PHA can be a life-threatening condition in the neonatal period with therapeutic options available.
Sources: Literature
Fetal anomalies v0.982 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Fetal anomalies v0.982 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.982 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from MAY-HEGGLIN ANOMALY; FECHTNER SYNDROME; EPSTEIN SYNDROME; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS; SEBASTIAN SYNDROME; DEAFNESS AUTOSOMAL DOMINANT TYPE 17 to Deafness, autosomal dominant 17 (MIM#603622); Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100)
Fetal anomalies v0.981 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Fetal anomalies v0.980 MYH9 Zornitza Stark Classified gene: MYH9 as Red List (low evidence)
Fetal anomalies v0.980 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.979 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.979 BCAS3 Zornitza Stark Marked gene: BCAS3 as ready
Fetal anomalies v0.979 BCAS3 Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence).
Fetal anomalies v0.979 BCAS3 Zornitza Stark Classified gene: BCAS3 as Green List (high evidence)
Fetal anomalies v0.979 BCAS3 Zornitza Stark Gene: bcas3 has been classified as Green List (High Evidence).
Fetal anomalies v0.978 BCAS3 Zornitza Stark gene: BCAS3 was added
gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, MIM# 619641
Review for gene: BCAS3 was set to GREEN
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein. All patients had hyperreflexia, spasticity.

Microcephaly and CC abnormalities may be detectable antenatally.
Sources: Expert Review
Fetal anomalies v0.977 ERCC2 Belinda Chong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702 9758621 11443545 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.977 ATR Zornitza Stark Marked gene: ATR as ready
Fetal anomalies v0.977 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Fetal anomalies v0.977 ATR Zornitza Stark Publications for gene: ATR were set to
Fetal anomalies v0.976 ATR Zornitza Stark Classified gene: ATR as Green List (high evidence)
Fetal anomalies v0.976 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Fetal anomalies v0.975 ATR Zornitza Stark reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.975 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Fetal anomalies v0.975 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.975 ATP6V1B2 Zornitza Stark Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480
Fetal anomalies v0.974 ATP6V1B2 Zornitza Stark Publications for gene: ATP6V1B2 were set to
Fetal anomalies v0.973 ATP6V1B2 Zornitza Stark Mode of inheritance for gene: ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.972 ATP6V1B2 Zornitza Stark Classified gene: ATP6V1B2 as Green List (high evidence)
Fetal anomalies v0.972 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.971 ATP6V1B2 Zornitza Stark edited their review of gene: ATP6V1B2: Changed rating: GREEN
Fetal anomalies v0.971 ATP6V1B2 Zornitza Stark reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.971 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Fetal anomalies v0.971 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.971 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome (OMIM # 615485)
Fetal anomalies v0.970 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Fetal anomalies v0.969 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.968 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.968 GDF6 Ain Roesley reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30733656, 29130651, 26643732; Phenotypes: Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.968 ASXL2 Zornitza Stark Marked gene: ASXL2 as ready
Fetal anomalies v0.968 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.968 ASXL2 Zornitza Stark Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features to Shashi-Pena syndrome, MIM# 617190
Fetal anomalies v0.967 ASXL2 Zornitza Stark Publications for gene: ASXL2 were set to
Fetal anomalies v0.966 ASXL2 Zornitza Stark Classified gene: ASXL2 as Green List (high evidence)
Fetal anomalies v0.966 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.965 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.965 NEK10 Krithika Murali gene: NEK10 was added
gene: NEK10 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Phenotypes for gene: NEK10 were set to Ciliary dyskinesia, primary, 44 - MIM#618781
Review for gene: NEK10 was set to RED
Added comment: Nine individuals from 5 unrelated families with primary ciliary dyskinesia, some functional data. No features that can be ascertained antenatally reported.
Sources: Literature
Fetal anomalies v0.965 ASPH Zornitza Stark Marked gene: ASPH as ready
Fetal anomalies v0.965 ASPH Zornitza Stark Gene: asph has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.965 ASPH Zornitza Stark Publications for gene: ASPH were set to
Fetal anomalies v0.964 ASPH Zornitza Stark reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.964 ARID2 Zornitza Stark Marked gene: ARID2 as ready
Fetal anomalies v0.964 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Fetal anomalies v0.964 ARID2 Zornitza Stark Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder to Coffin-Siris syndrome 6, MIM# 617808
Fetal anomalies v0.963 ARID2 Zornitza Stark Publications for gene: ARID2 were set to
Fetal anomalies v0.962 ARID2 Zornitza Stark Mode of inheritance for gene: ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.961 ARID2 Zornitza Stark Classified gene: ARID2 as Green List (high evidence)
Fetal anomalies v0.961 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Fetal anomalies v0.960 ARID2 Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported.

Short stature and minor dysmorphisms/congenital anomalies reported, e.g. micrognathia.
Fetal anomalies v0.960 GFAP Ain Roesley reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301351; Phenotypes: Alexander disease MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Marked gene: ARHGAP29 as ready
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Publications for gene: ARHGAP29 were set to
Fetal anomalies v0.959 ARHGAP29 Zornitza Stark Mode of inheritance for gene: ARHGAP29 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.958 ARHGAP29 Zornitza Stark Classified gene: ARHGAP29 as Green List (high evidence)
Fetal anomalies v0.958 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.957 ARHGAP29 Zornitza Stark reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.957 NFIX Daniel Flanagan changed review comment from: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.

Well established gene-disease association.

Marshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. Atrial septal defect; to: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.

Well established gene-disease association.

Marshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome.
Fetal anomalies v0.957 NFIX Daniel Flanagan reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.957 NEU1 Daniel Flanagan reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11063730, 11829139, 14695530; Phenotypes: Sialidosis, type I, type II (MIM#256550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GFM1 Ain Roesley reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 MCIDAS Krithika Murali gene: MCIDAS was added
gene: MCIDAS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCIDAS were set to 32802948; 25048963; 30237576
Phenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695
Review for gene: MCIDAS was set to GREEN
Added comment: PMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging.

PMID 25048963 - 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition.

PMID 32802948 - Retrospective cohort study for 7 consecutive patients diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1
diagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B.
Sources: Literature
Fetal anomalies v0.957 NECTIN4 Daniel Flanagan reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577405, 20691405, 25529316; Phenotypes: Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GJA3 Ain Roesley reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 EPHB4 Belinda Chong reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 GJC2 Ain Roesley reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GAS2L2 Krithika Murali gene: GAS2L2 was added
gene: GAS2L2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to 30665704
Phenotypes for gene: GAS2L2 were set to ?Ciliary dyskinesia, primary, 41 - OMIM#618449
Review for gene: GAS2L2 was set to RED
Added comment: Two families with PCD and functional evidence. No mention of heterotaxy or phenotype that can be ascertained antenatally.
Sources: Literature
Fetal anomalies v0.957 GLA Ain Roesley reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 20301469; Phenotypes: Fabry disease MIM#301500, Fabry disease, cardiac variant MIM#301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.957 NBAS Daniel Flanagan reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 27789416, 29955634, 26073778; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800), bone fragility, developmental delay, immunodeficiency, autism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 DNAJB13 Krithika Murali gene: DNAJB13 was added
gene: DNAJB13 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB13 were set to 31342671; 27486783
Phenotypes for gene: DNAJB13 were set to Primary ciliary dyskinesia
Review for gene: DNAJB13 was set to RED
Added comment: Two families reported with PCD phenotype, but no mention of heterotaxy.
Sources: Literature
Fetal anomalies v0.957 DNAH8 Krithika Murali gene: DNAH8 was added
gene: DNAH8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH8 were set to 31178125; 24307375; 32619401; 32681648
Phenotypes for gene: DNAH8 were set to Spermatogenic failure 46 - OMIM# 619095; primary ciliary dyskinesia
Review for gene: DNAH8 was set to RED
Added comment: Associated with male infertility, primary ciliary dyskinesia - no fetal phenotype reported
Sources: Literature
Fetal anomalies v0.957 BRWD1 Krithika Murali reviewed gene: BRWD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33389130; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 BRWD1 Krithika Murali Deleted their review
Fetal anomalies v0.957 DNAH6 Krithika Murali gene: DNAH6 was added
gene: DNAH6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH6 were set to 26918822
Phenotypes for gene: DNAH6 were set to heterotaxy; azoospermia
Review for gene: DNAH6 was set to AMBER
Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.

Summary: 1 convincing patient with animal model
Sources: Literature
Fetal anomalies v0.957 GLB1 Ain Roesley reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 DNAH1 Krithika Murali gene: DNAH1 was added
gene: DNAH1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH1 were set to 25927852; 31507630
Phenotypes for gene: DNAH1 were set to Situs inversus; primary ciliary dyskinesia; infertility
Review for gene: DNAH1 was set to AMBER
Added comment: PMID - 25927852 x2 siblings from consanguineous Saudi family with homozygous missense variants (p.Lys1154Gln). More detailed clinical information available for proband diagnosed with Kartagener syndrome - chronic respiratory infections, situs inversus and infertility. Sister also reported to have been diagnosed with Kartagener syndrome at a similar age but no additional clinical information provided.

PMID: 31765523 - 1 patient with PCD with a single het missense.

PMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. Microscopy of sperm revealed dynein disorganization

PMID: 31507630 - 1 chet patient with kartagener syndrome, a subtype of PCD. Variants were classified as VUS initially - now c.442C>T (p.Arg148Cys) remains VUS, c.3103C > T p.R1035C re-classified as likely benign. Additional patient was het for a single nonsense, authors acknowledge missed 2nd hit and that this alone was not causative.

Currently listed as red gene in Heterotaxy panel
Sources: Literature
Fetal anomalies v0.957 GLDC Ain Roesley reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 2246863, 1634607; Phenotypes: Glycine encephalopathy (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GLI2 Ain Roesley reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885, 15994174, 20685856, 30629636, 30583238; Phenotypes: Culler-Jones syndrome, MIM#615849, Holoprosencephaly 9, MIM# 61082); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 EP300 Belinda Chong reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506490, 29460469; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684, Menke-Hennekam syndrome , MIM#2 618333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 CFAP74 Krithika Murali gene: CFAP74 was added
gene: CFAP74 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP74 were set to 32555313
Phenotypes for gene: CFAP74 were set to infertility; primary ciliary dyskinesia
Review for gene: CFAP74 was set to RED
Added comment: Compound het missense variants identified in 2 unrelated patients presenting with male infertility, chronic bronchiectasis and frequent sinusitis.
Sources: Literature
Fetal anomalies v0.957 NANS Daniel Flanagan reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27213289; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 CFAP57 Krithika Murali gene: CFAP57 was added
gene: CFAP57 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CFAP57 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CFAP57 were set to 21574244; 32764743
Phenotypes for gene: CFAP57 were set to Van der Woude syndrome; primary ciliary dyskinesia like
Review for gene: CFAP57 was set to RED
Added comment: Homozygous nonsense variants identified in a 38-year-old male with PCD phenotype (history of neonatal respiratory distress, otitis media, sinusitis and bronchiectasis)

x1 Het VUS reported in an individual with van der Woude syndrome - reviewed ClinVar - remains classified as VUS
Sources: Literature
Fetal anomalies v0.957 NALCN Daniel Flanagan reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 23749988, 24075186; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266), Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.957 CFAP43 Krithika Murali gene: CFAP43 was added
gene: CFAP43 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to 31884020; 28552195; 31004071; 29449551
Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592
Review for gene: CFAP43 was set to RED
Added comment: Associated with infertility. Only adult-onset hydrocephalus reported.
Sources: Literature
Fetal anomalies v0.957 GLUL Ain Roesley reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: None; Publications: 16267323, 21353613, 33150193; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GNAI3 Ain Roesley reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 BRWD1 Krithika Murali gene: BRWD1 was added
gene: BRWD1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Situs inversus; primary ciliary dyskinesia like
Review for gene: BRWD1 was set to GREEN
Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-likely" symptoms of re-occurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).
Sources: Expert list, Literature
Fetal anomalies v0.957 NAGA Daniel Flanagan reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease (MIM# 609242), Schindler disease, type I and type II (MIM#609241), alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GNPAT Ain Roesley reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765, MONDO:0009112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Fetal anomalies v0.956 ARFGEF2 Zornitza Stark Classified gene: ARFGEF2 as Green List (high evidence)
Fetal anomalies v0.956 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.955 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.955 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Fetal anomalies v0.955 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Fetal anomalies v0.955 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Fetal anomalies v0.954 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Fetal anomalies v0.953 AP4S1 Zornitza Stark Classified gene: AP4S1 as Green List (high evidence)
Fetal anomalies v0.953 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Fetal anomalies v0.952 AP4S1 Zornitza Stark changed review comment from: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 families reported and a zebrafish model.; to: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe ID with poor or absent speech development. More than 10 families reported and a zebrafish model.

Microcephaly is a feature.
Fetal anomalies v0.952 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Fetal anomalies v0.952 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Fetal anomalies v0.952 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Fetal anomalies v0.951 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Fetal anomalies v0.950 AP4M1 Zornitza Stark Classified gene: AP4M1 as Green List (high evidence)
Fetal anomalies v0.950 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Fetal anomalies v0.949 AP4M1 Zornitza Stark changed review comment from: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.; to: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Fetal anomalies v0.949 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Fetal anomalies v0.949 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.949 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 3152572521620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725
Fetal anomalies v0.948 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Fetal anomalies v0.947 AP4B1 Zornitza Stark Classified gene: AP4B1 as Green List (high evidence)
Fetal anomalies v0.947 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.946 AP4B1 Zornitza Stark changed review comment from: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.; to: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Fetal anomalies v0.946 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Fetal anomalies v0.946 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.946 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from Epileptic Encephalopathy with Optic Atrophy to Developmental and epileptic encephalopathy 48, MIM# 617276
Fetal anomalies v0.945 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Fetal anomalies v0.944 AP3B2 Zornitza Stark changed review comment from: At least 8 unrelated families reported.; to: At least 8 unrelated families reported. Onset of symptoms is post-natal. Microcephaly reported in some, though onset is unclear.
Fetal anomalies v0.944 MYH9 Daniel Flanagan reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17 (MIM#603622), Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.944 AP3B2 Zornitza Stark edited their review of gene: AP3B2: Changed rating: AMBER
Fetal anomalies v0.944 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Fetal anomalies v0.944 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.944 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome 228600 to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Fetal anomalies v0.943 ANTXR2 Zornitza Stark Classified gene: ANTXR2 as Green List (high evidence)
Fetal anomalies v0.943 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.942 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.942 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Fetal anomalies v0.942 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Fetal anomalies v0.942 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Fetal anomalies v0.941 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from Nephronophthisis 16, 615382 to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Fetal anomalies v0.940 ANKS6 Zornitza Stark Classified gene: ANKS6 as Green List (high evidence)
Fetal anomalies v0.940 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Fetal anomalies v0.939 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Fetal anomalies v0.939 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Fetal anomalies v0.939 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from THROMBOCYTOPENIA 2 to Thrombocytopaenia 2, MIM# 188000
Fetal anomalies v0.938 ANKRD26 Zornitza Stark Publications for gene: ANKRD26 were set to
Fetal anomalies v0.937 ANKRD26 Zornitza Stark Mode of inheritance for gene: ANKRD26 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.936 ANKRD26 Zornitza Stark Classified gene: ANKRD26 as Red List (low evidence)
Fetal anomalies v0.936 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Red List (Low Evidence).
Fetal anomalies v0.935 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.935 WNT4 Chloe Stutterd reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 16959810, 15317892, 18182450; Phenotypes: 158330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.935 WWOX Chloe Stutterd reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33916893; Phenotypes: 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.935 ZNF750 Chloe Stutterd reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: Smit, C., Bütow, K. W., Naidoo, S., & Olorunju, S. (2019). Identification of Possible Maternal Risk Factors for Development of Syndromic Oro-Facial Clefts. Clinical Neurology and Neuroscience, 3(3), 58.; Phenotypes: 610227; Mode of inheritance: None
Fetal anomalies v0.935 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Fetal anomalies v0.935 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.935 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Fetal anomalies v0.934 GNB1 Zornitza Stark Publications for gene: GNB1 were set to
Fetal anomalies v0.933 GNB1 Zornitza Stark Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.932 GNB1 Zornitza Stark changed review comment from: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.; to: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.

Multiple congenital anomalies, including cleft palate, congenital heart disease and craniosynostosis reported.
Fetal anomalies v0.932 GDF11 Zornitza Stark Marked gene: GDF11 as ready
Fetal anomalies v0.932 GDF11 Zornitza Stark Gene: gdf11 has been classified as Green List (High Evidence).
Fetal anomalies v0.932 GDF11 Zornitza Stark Classified gene: GDF11 as Green List (high evidence)
Fetal anomalies v0.932 GDF11 Zornitza Stark Gene: gdf11 has been classified as Green List (High Evidence).
Fetal anomalies v0.931 GDF11 Zornitza Stark gene: GDF11 was added
gene: GDF11 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Review for gene: GDF11 was set to GREEN
Added comment: Ravenscroft et al. (2021) report additional 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants.
Sources: Expert Review
Fetal anomalies v0.930 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Fetal anomalies v0.930 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Fetal anomalies v0.930 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from OFD IX to Orofacial digital syndrome type IX
Fetal anomalies v0.929 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence)
Fetal anomalies v0.929 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Fetal anomalies v0.928 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284; Phenotypes: Orofacial digital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.928 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.927 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Fetal anomalies v0.927 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Fetal anomalies v0.927 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Fetal anomalies v0.927 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Fetal anomalies v0.926 TMEM260 Zornitza Stark changed review comment from: Two families reported; predominant phenotype is that of complex severe congenital heart disease and renal anomalies. Although corpus callosum abnormalities/microcephaly were described in some, DD/ID not specifically reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Fetal anomalies v0.926 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517
Fetal anomalies v0.926 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Fetal anomalies v0.926 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Fetal anomalies v0.926 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Fetal anomalies v0.926 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Fetal anomalies v0.925 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Fetal anomalies v0.924 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Fetal anomalies v0.924 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Fetal anomalies v0.924 CSF1R Zornitza Stark Classified gene: CSF1R as Green List (high evidence)
Fetal anomalies v0.924 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Fetal anomalies v0.923 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Review for gene: CSF1R was set to GREEN
Added comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.

Four unrelated families reported.

Note mono-allelic variants cause an adult-onset disorder.
Sources: Literature
Fetal anomalies v0.922 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Fetal anomalies v0.922 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Fetal anomalies v0.922 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Fetal anomalies v0.922 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Fetal anomalies v0.921 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Expert Review
Fetal anomalies v0.920 EIF5A Zornitza Stark Marked gene: EIF5A as ready
Fetal anomalies v0.920 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Fetal anomalies v0.920 EIF5A Zornitza Stark Classified gene: EIF5A as Green List (high evidence)
Fetal anomalies v0.920 EIF5A Zornitza Stark Gene: eif5a has been classified as Green List (High Evidence).
Fetal anomalies v0.919 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Expert Review
Fetal anomalies v0.918 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Fetal anomalies v0.918 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.918 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Fetal anomalies v0.918 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.917 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: 12 individuals from 7 families reported.
Sources: Expert Review
Fetal anomalies v0.916 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
Fetal anomalies v0.916 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.916 PRRX1 Zornitza Stark Classified gene: PRRX1 as Green List (high evidence)
Fetal anomalies v0.916 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.915 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex, MIM# 202650
Review for gene: PRRX1 was set to GREEN
Added comment: Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.

Three unrelated individuals reported with heterozygous LoF variants, one family with bi-allelic variants.
Sources: Expert Review
Fetal anomalies v0.914 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Fetal anomalies v0.914 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Fetal anomalies v0.914 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine 617301; Arthrogryposis
Fetal anomalies v0.913 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Fetal anomalies v0.912 SLC6A9 Zornitza Stark Classified gene: SLC6A9 as Green List (high evidence)
Fetal anomalies v0.912 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Fetal anomalies v0.911 SLC6A9 Zornitza Stark Deleted their comment
Fetal anomalies v0.911 SLC6A9 Zornitza Stark commented on gene: SLC6A9: Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family)
Fetal anomalies v0.911 SLC6A9 Zornitza Stark edited their review of gene: SLC6A9: Changed publications: 27773429, 27481395, 31875334, 32712301, 33269555; Changed phenotypes: Glycine encephalopathy with normal serum glycine 617301, Arthrogryposis
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from COFFIN SIRIS to Coffin-Siris syndrome 5, MIM# 616938
Fetal anomalies v0.910 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Fetal anomalies v0.909 SMARCE1 Zornitza Stark Classified gene: SMARCE1 as Green List (high evidence)
Fetal anomalies v0.909 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Fetal anomalies v0.908 SMARCE1 Zornitza Stark edited their review of gene: SMARCE1: Changed publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215
Fetal anomalies v0.908 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.908 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Fetal anomalies v0.908 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Fetal anomalies v0.908 KIDINS220 Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169
Fetal anomalies v0.907 KIDINS220 Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence)
Fetal anomalies v0.907 KIDINS220 Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence).
Fetal anomalies v0.906 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Fetal anomalies v0.906 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Fetal anomalies v0.906 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Fetal anomalies v0.905 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Fetal anomalies v0.904 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.903 TAB2 Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.903 ZFPM2 Zornitza Stark Phenotypes for gene: ZFPM2 were changed from 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500 to Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500
Fetal anomalies v0.902 ZFPM2 Zornitza Stark reviewed gene: ZFPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 3 - MIM#610187, Tetralogy of Fallot - MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Marked gene: ZFPM2 as ready
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Classified gene: ZFPM2 as Green List (high evidence)
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.901 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready
Fetal anomalies v0.901 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.901 SLIT3 Zornitza Stark Classified gene: SLIT3 as Amber List (moderate evidence)
Fetal anomalies v0.901 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.900 TRIM71 Zornitza Stark Marked gene: TRIM71 as ready
Fetal anomalies v0.900 TRIM71 Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence).
Fetal anomalies v0.900 TRIM71 Zornitza Stark Classified gene: TRIM71 as Green List (high evidence)
Fetal anomalies v0.900 TRIM71 Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence).
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Classified gene: TNFRSF11A as Green List (high evidence)
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Fetal anomalies v0.898 RNF125 Zornitza Stark Marked gene: RNF125 as ready
Fetal anomalies v0.898 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Fetal anomalies v0.898 RNF125 Zornitza Stark Phenotypes for gene: RNF125 were changed from Tenorio syndromem - MIM# 616260 to Tenorio syndrome - MIM# 616260
Fetal anomalies v0.897 RNF125 Zornitza Stark Classified gene: RNF125 as Green List (high evidence)
Fetal anomalies v0.897 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Fetal anomalies v0.896 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Fetal anomalies v0.896 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Fetal anomalies v0.896 MPDZ Zornitza Stark Classified gene: MPDZ as Green List (high evidence)
Fetal anomalies v0.896 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Fetal anomalies v0.895 MPDZ Zornitza Stark Tag founder tag was added to gene: MPDZ.
Fetal anomalies v0.895 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Fetal anomalies v0.895 KIF4A Zornitza Stark Gene: kif4a has been classified as Green List (High Evidence).
Fetal anomalies v0.895 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100 - OMIM# 300923; Hydrocephalus to Intellectual developmental disorder, X-linked 100 - OMIM# 300923; Hydrocephalus
Fetal anomalies v0.894 KIF4A Zornitza Stark Classified gene: KIF4A as Green List (high evidence)
Fetal anomalies v0.894 KIF4A Zornitza Stark Gene: kif4a has been classified as Green List (High Evidence).
Fetal anomalies v0.893 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Fetal anomalies v0.893 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.893 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Fetal anomalies v0.893 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Fetal anomalies v0.891 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Fetal anomalies v0.891 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.891 EEF2 Zornitza Stark Classified gene: EEF2 as Green List (high evidence)
Fetal anomalies v0.891 EEF2 Zornitza Stark Gene: eef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.890 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Fetal anomalies v0.890 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.890 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Fetal anomalies v0.890 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.889 ATP11A Zornitza Stark Marked gene: ATP11A as ready
Fetal anomalies v0.889 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.889 ATP11A Zornitza Stark Classified gene: ATP11A as Amber List (moderate evidence)
Fetal anomalies v0.889 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.888 PLS3 Zornitza Stark Marked gene: PLS3 as ready
Fetal anomalies v0.888 PLS3 Zornitza Stark Gene: pls3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.888 PLS3 Zornitza Stark Classified gene: PLS3 as Amber List (moderate evidence)
Fetal anomalies v0.888 PLS3 Zornitza Stark Gene: pls3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.887 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Fetal anomalies v0.887 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.887 MMP9 Zornitza Stark Classified gene: MMP9 as Amber List (moderate evidence)
Fetal anomalies v0.887 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.886 MMP9 Zornitza Stark reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 2 - MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.886 ZFPM2 Krithika Murali gene: ZFPM2 was added
gene: ZFPM2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFPM2 were set to 16103912; 17568391; 24702427; 10892744; 21919901; 14517948
Phenotypes for gene: ZFPM2 were set to 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500
Review for gene: ZFPM2 was set to GREEN
Added comment: Associated with congenital diaphragmatic hernia, congenital heart disease and sex reversal.
Sources: Expert list, Literature
Fetal anomalies v0.886 SLIT3 Krithika Murali gene: SLIT3 was added
gene: SLIT3 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 33933663
Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia
Review for gene: SLIT3 was set to AMBER
Added comment: Two affected individuals, single family, supportive mouse model.
Sources: Expert list, Literature
Fetal anomalies v0.886 TRIM71 Krithika Murali gene: TRIM71 was added
gene: TRIM71 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 - #618667
Review for gene: TRIM71 was set to GREEN
Added comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.

PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder

PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism.
Sources: Literature, Expert list
Fetal anomalies v0.886 TNFRSF11A Krithika Murali reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.886 TNFRSF11A Krithika Murali Deleted their review
Fetal anomalies v0.886 TNFRSF11A Krithika Murali gene: TNFRSF11A was added
gene: TNFRSF11A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Review for gene: TNFRSF11A was set to AMBER
Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.

Although antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203)
Sources: Literature
Fetal anomalies v0.886 RNF125 Krithika Murali gene: RNF125 was added
gene: RNF125 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF125 were set to 25196541
Phenotypes for gene: RNF125 were set to Tenorio syndromem - MIM# 616260
Review for gene: RNF125 was set to GREEN
Added comment: 1 de novo deletion and 3 missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability and mild hydrocephaly.
Sources: Literature
Fetal anomalies v0.886 MPDZ Krithika Murali gene: MPDZ was added
gene: MPDZ was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 28556411; 23240096; 30518636; 29499638
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219
Review for gene: MPDZ was set to GREEN
Added comment: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants.
Sources: Expert list, Literature
Fetal anomalies v0.886 KIF4A Krithika Murali gene: KIF4A was added
gene: KIF4A was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KIF4A were set to 24812067; 34346154; 30679815
Phenotypes for gene: KIF4A were set to ?Intellectual developmental disorder, X-linked 100 - OMIM# 300923; Hydrocephalus
Review for gene: KIF4A was set to GREEN
Added comment: KIF4A variants associated with a phenotypic spectrum from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end.
Sources: Expert list, Literature
Fetal anomalies v0.886 ISLR2 Krithika Murali gene: ISLR2 was added
gene: ISLR2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to Hydrocephalus; arthrogryposis
Review for gene: ISLR2 was set to AMBER
Added comment: Homozygous truncating variant in a single consanguineous family segregated with severe congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension. Mouse model also had hydrocephalus.
Sources: Expert list, Literature
Fetal anomalies v0.886 FOXJ1 Krithika Murali gene: FOXJ1 was added
gene: FOXJ1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43 - MIM# 618699
Review for gene: FOXJ1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene associated with a motile ciliopathy characterized by hydrocephalus, chronic destructive airway disease, and
randomization of left/right body asymmetry
Sources: Expert list, Literature
Fetal anomalies v0.886 EEF2 Krithika Murali gene: EEF2 was added
gene: EEF2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus
Review for gene: EEF2 was set to GREEN
Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature, Expert list
Fetal anomalies v0.886 DLL1 Krithika Murali gene: DLL1 was added
gene: DLL1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709
Review for gene: DLL1 was set to GREEN
Added comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed non-specific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia.
Sources: Expert list, Literature
Fetal anomalies v0.886 ATP11A Krithika Murali gene: ATP11A was added
gene: ATP11A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP11A were set to 34403372
Phenotypes for gene: ATP11A were set to Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum
Review for gene: ATP11A was set to AMBER
Added comment: PMID: 34403372
- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. Epilepsy diagnosed at 2 weeks of age followed by global developmental delay, mild hypothyroidism and cataracts.
- Repeated MRI (earliest published is from age 2 yo) showed non-progressive severe cerebral atrophy, enlarged subarachnoid space, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum.
- Axonal neuropathy suggested.
- K/I heterozygous mice died perinatally.
- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.

gnomAD: some NMD PTCs present, good quality variants found with 4-5 hets.
Sources: Literature
Fetal anomalies v0.886 PLS3 Krithika Murali gene: PLS3 was added
gene: PLS3 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910
Review for gene: PLS3 was set to AMBER
Added comment: First reported in 2013 (PMID 24088043). Associated with childhood-onset primary osteoporosis with presentations of varying severity with a phenotype similar to osteogenesis imperfecta.

No published reports of antenatal diagnosis.
Sources: Expert list, Literature
Fetal anomalies v0.886 MMP9 Krithika Murali gene: MMP9 was added
gene: MMP9 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP9 were set to 19615667; 28342220; 34407464
Phenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 - MIM# 613073
Review for gene: MMP9 was set to GREEN
Added comment: Biallelic variants in MMP9 associated with autosomal recessive, metaphyseal anadysplasia type 2. Usually associated with a milder phenotype characterised by normal birth length, transitory bowing of the legs, spontaneous regression and disappearance of metaphyseal alterations during adolescence. Phenotype of MAD type 2 cases secondary to biallelic MMP13 gene mutations (more reported cases associated with this gene) similar to MMP9 associated cases.

MMP9-associated MAD type 2 cases reported so far:

x2 sibs from 1 consanguineous Pakistani family diagnosed postnatally with normal stature, genu varum, metaphyseal fraying during infancy (PMID 19615667)

x1 child from consanguineous family with homozygous nonsense variants diagnosed age 19 months with improvement of skeletal manifestations over a short period and by an early age (PMID 34407464)

x2 siblings from x1 non-consanguineous Jewish Caucasian family reported with more severe phenotype than other previously reported cases for MAD type 2 (PMID 28342220). Both siblings diagnosed during 2nd trimester with shortening of long bones. x1 fetus terminated at 19 weeks gestation - dysmorphic face including micrognathia, flattened nose, hypertelorism, short neck and hypoplastic lungs. 2nd liveborn female - reduced body length at birth (-4 SD), facial dysmorphism, cleft palate, anteriorly placed anus and other anomalies. No radiographic metaphyseal anomalies. Both children identified as having the same homozygous MMP9 missense variants. Authors acknowledge the phenotype is more severe than other previously reported cases of MAD type 2 associated with MMP9 or MMP13 gene variants. Some dispute regarding this prenatal case as detailed by PMID 34407464 such as possibility of an alternative skeletal dysplasia diagnosis (Desbuquois dypslasia type 2) and presence of 5 homozygotes in gnomad with the same missense variants - ?founder mutation.

Borderline amber-green gene in the prenatal setting based on current evidence.
Sources: Expert list, Literature
Fetal anomalies v0.886 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Fetal anomalies v0.886 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Fetal anomalies v0.886 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Fetal anomalies v0.885 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Fetal anomalies v0.884 CLCNKB Zornitza Stark Classified gene: CLCNKB as Green List (high evidence)
Fetal anomalies v0.884 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Fetal anomalies v0.883 CLCNKB Zornitza Stark changed review comment from: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance. ID described in digenic inheritance.; to: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance.

Can present antenatally with polyhydramnios
Fetal anomalies v0.883 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Fetal anomalies v0.883 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Fetal anomalies v0.883 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia 611884 to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Fetal anomalies v0.882 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Marked gene: DNAAF4 as ready
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Gene: dnaaf4 has been classified as Green List (High Evidence).
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Phenotypes for gene: DNAAF4 were changed from PRIMARY CILIARY DYSPLASIA to Ciliary dyskinesia, primary, 25, MIM# 615482
Fetal anomalies v0.880 DNAAF4 Zornitza Stark Publications for gene: DNAAF4 were set to
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763 to Ciliary dyskinesia, primary, 2, MIM# 606763
Fetal anomalies v0.878 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia 613193 to Ciliary dyskinesia, primary, 13, MIM# 613193
Fetal anomalies v0.876 DNAAF1 Zornitza Stark Publications for gene: DNAAF1 were set to
Fetal anomalies v0.875 DMPK Zornitza Stark Marked gene: DMPK as ready
Fetal anomalies v0.875 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Fetal anomalies v0.875 DMPK Zornitza Stark Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1 to Myotonic dystrophy 1, MIM#160900
Fetal anomalies v0.874 DMPK Zornitza Stark Mode of pathogenicity for gene: DMPK was changed from to Other
Fetal anomalies v0.873 DMPK Zornitza Stark Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.872 DMPK Zornitza Stark changed review comment from: Intellectual disability is a feature of the congenital form of this triplet expansion disorder.; to: Triplet expansion disorder, severe perinatal form.
Fetal anomalies v0.872 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Fetal anomalies v0.872 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Fetal anomalies v0.872 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Fetal anomalies v0.872 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Fetal anomalies v0.871 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Fetal anomalies v0.870 DLL3 Zornitza Stark edited their review of gene: DLL3: Changed publications: 10742114, 12746394
Fetal anomalies v0.870 DLL3 Zornitza Stark edited their review of gene: DLL3: Changed publications: 10742114, 10742114
Fetal anomalies v0.870 DLL3 Zornitza Stark changed review comment from: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.

; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.

More than 10 unrelated families reported, well established gene-disease association.
Fetal anomalies v0.870 DLL3 Zornitza Stark changed review comment from: Single case report where CDH was observed in addition to the skeletal abnormalities, predates gene identification.; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.
Fetal anomalies v0.870 DLL3 Zornitza Stark edited their review of gene: DLL3: Changed rating: GREEN
Fetal anomalies v0.870 DHFR Zornitza Stark Marked gene: DHFR as ready
Fetal anomalies v0.870 DHFR Zornitza Stark Gene: dhfr has been classified as Red List (Low Evidence).
Fetal anomalies v0.870 DHFR Zornitza Stark Phenotypes for gene: DHFR were changed from MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839
Fetal anomalies v0.869 DHFR Zornitza Stark Publications for gene: DHFR were set to
Fetal anomalies v0.868 DHFR Zornitza Stark Classified gene: DHFR as Red List (low evidence)
Fetal anomalies v0.868 DHFR Zornitza Stark Gene: dhfr has been classified as Red List (Low Evidence).
Fetal anomalies v0.867 DHFR Zornitza Stark edited their review of gene: DHFR: Changed rating: RED
Fetal anomalies v0.867 DHFR Zornitza Stark changed review comment from: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation.; to: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation. Earliest presentation was post-natal with acquired microcephaly.
Fetal anomalies v0.867 DHFR Zornitza Stark edited their review of gene: DHFR: Changed rating: AMBER
Fetal anomalies v0.867 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Fetal anomalies v0.867 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Fetal anomalies v0.867 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from SMITH-LEMLI-OPITZ SYNDROME to Smith-Lemli-Opitz syndrome, MIM# 270400
Fetal anomalies v0.866 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to 31840946
Fetal anomalies v0.865 DHCR7 Zornitza Stark changed review comment from: Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert list; to: Well established gene-disease association, multiple congenital anomalies.

Sources: Expert list
Fetal anomalies v0.865 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Fetal anomalies v0.865 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Fetal anomalies v0.865 SMAD2 Zornitza Stark Classified gene: SMAD2 as Green List (high evidence)
Fetal anomalies v0.865 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Fetal anomalies v0.864 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133; 30157302; 23665959
Phenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease
Review for gene: SMAD2 was set to GREEN
Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype
Sources: Expert Review
Fetal anomalies v0.863 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Fetal anomalies v0.863 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Fetal anomalies v0.863 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from DESMOSTEROLOSIS to Desmosterolosis, MIM# 602398
Fetal anomalies v0.862 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Fetal anomalies v0.861 DHCR24 Zornitza Stark changed review comment from: At least 4 families reported where contractures are a feature of the condition.
Sources: Expert list; to: At least 4 families reported where contractures are a feature of the condition. Other congenital anomalies reported as well.

Sources: Expert list
Fetal anomalies v0.861 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Fetal anomalies v0.861 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Fetal anomalies v0.861 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from WARSAW BREAKAGE SYNDROME to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Fetal anomalies v0.860 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Fetal anomalies v0.859 EMD Zornitza Stark Marked gene: EMD as ready
Fetal anomalies v0.859 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Fetal anomalies v0.859 EMD Zornitza Stark Publications for gene: EMD were set to 26247046
Fetal anomalies v0.858 EMD Zornitza Stark Classified gene: EMD as Red List (low evidence)
Fetal anomalies v0.858 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Fetal anomalies v0.857 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: 20301609; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.857 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Fetal anomalies v0.857 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.857 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from Mosaic Variegated Aneuploidy and Wilms Tumour to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Fetal anomalies v0.856 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Fetal anomalies v0.855 EMD Belinda Chong reviewed gene: EMD: Rating: ; Mode of pathogenicity: None; Publications: 21697856, 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY to Combined oxidative phosphorylation deficiency 23 MIM#616198
Fetal anomalies v0.854 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Fetal anomalies v0.853 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.853 GRIP1 Zornitza Stark Marked gene: GRIP1 as ready
Fetal anomalies v0.853 GRIP1 Zornitza Stark Gene: grip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.853 GRIP1 Zornitza Stark Phenotypes for gene: GRIP1 were changed from Fraser syndrome 219000 to Fraser syndrome 3 MIM#617667
Fetal anomalies v0.852 GRIP1 Zornitza Stark Publications for gene: GRIP1 were set to 22510445
Fetal anomalies v0.851 GRHL3 Zornitza Stark Marked gene: GRHL3 as ready
Fetal anomalies v0.851 GRHL3 Zornitza Stark Gene: grhl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.851 GRHL3 Zornitza Stark Phenotypes for gene: GRHL3 were changed from VAN DER WOUDE SYNDROME to Van der Woude syndrome 2 MIM#606713
Fetal anomalies v0.850 GRHL3 Zornitza Stark Publications for gene: GRHL3 were set to
Fetal anomalies v0.849 GRHL3 Zornitza Stark Mode of inheritance for gene: GRHL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.848 GNS Zornitza Stark Marked gene: GNS as ready
Fetal anomalies v0.848 GNS Zornitza Stark Gene: gns has been classified as Green List (High Evidence).
Fetal anomalies v0.848 GNS Zornitza Stark Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658
Fetal anomalies v0.847 GNS Zornitza Stark Publications for gene: GNS were set to
Fetal anomalies v0.846 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Fetal anomalies v0.846 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Fetal anomalies v0.846 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II to Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600
Fetal anomalies v0.845 GNPTAB Zornitza Stark Publications for gene: GNPTAB were set to
Fetal anomalies v0.844 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Fetal anomalies v0.844 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.844 AMMECR1 Zornitza Stark Publications for gene: AMMECR1 were set to
Fetal anomalies v0.843 AMMECR1 Zornitza Stark Classified gene: AMMECR1 as Red List (low evidence)
Fetal anomalies v0.843 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.842 AMMECR1 Zornitza Stark reviewed gene: AMMECR1: Rating: RED; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Marked gene: AMBRA1 as ready
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Gene: ambra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Classified gene: AMBRA1 as Green List (high evidence)
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Gene: ambra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.841 AMBRA1 Zornitza Stark reviewed gene: AMBRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17589504, 32333458; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.841 AMACR Zornitza Stark Marked gene: AMACR as ready
Fetal anomalies v0.841 AMACR Zornitza Stark Gene: amacr has been classified as Red List (Low Evidence).
Fetal anomalies v0.841 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency, 614307 to Bile acid synthesis defect, congenital, 4, MIM# 214950
Fetal anomalies v0.840 AMACR Zornitza Stark Publications for gene: AMACR were set to
Fetal anomalies v0.839 AMACR Zornitza Stark Classified gene: AMACR as Red List (low evidence)
Fetal anomalies v0.839 AMACR Zornitza Stark Gene: amacr has been classified as Red List (Low Evidence).
Fetal anomalies v0.838 AMACR Zornitza Stark reviewed gene: AMACR: Rating: RED; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.838 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Fetal anomalies v0.838 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.838 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, 606545 to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Fetal anomalies v0.837 ALOXE3 Zornitza Stark Publications for gene: ALOXE3 were set to
Fetal anomalies v0.836 GNPTAB Ain Roesley reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.836 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM# 606545; Mode of inheritance: None
Fetal anomalies v0.836 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Fetal anomalies v0.836 ALOX12B Zornitza Stark Gene: alox12b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.836 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive 2, 242100 to Ichthyosis, congenital, autosomal recessive 2, MIM#242100
Fetal anomalies v0.835 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Fetal anomalies v0.834 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: None
Fetal anomalies v0.834 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Fetal anomalies v0.834 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Fetal anomalies v0.834 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210; ALG9-CDG; hydops fetalis; AR lethal skeletal dysplasia; NIHF to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Fetal anomalies v0.833 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Fetal anomalies v0.833 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Fetal anomalies v0.832 ALG9 Zornitza Stark edited their review of gene: ALG9: Changed publications: 28932688, 25966638, 26453364
Fetal anomalies v0.832 ALG9 Zornitza Stark edited their review of gene: ALG9: Changed phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Fetal anomalies v0.832 ALG9 Zornitza Stark changed review comment from: 11 patients from 7 families reported. DD/ID is part of the phenotype.; to: Bi-allelic variants and CDG: At least 7 unrelated families reported, 11 individuals. Clinical features include failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; three patients died in utero from a lethal skeletal dysplasia. The severe end of the spectrum is referred to as Gillessen-Kaesbach-Nishimura syndrome and is characterised by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life.
Fetal anomalies v0.832 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Fetal anomalies v0.832 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.832 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from ALG2-CDG to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Fetal anomalies v0.831 ALG2 Zornitza Stark Publications for gene: ALG2 were set to
Fetal anomalies v0.830 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Fetal anomalies v0.830 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.829 ALG2 Zornitza Stark edited their review of gene: ALG2: Added comment: Association with myasthenia: Two families reported, same, likely founder variant. Onset of symptoms was in infancy rather than congenital.

Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.; Changed publications: 23404334, 24461433, 12684507
Fetal anomalies v0.829 ALG13 Zornitza Stark Marked gene: ALG13 as ready
Fetal anomalies v0.829 ALG13 Zornitza Stark Gene: alg13 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.829 ALG13 Zornitza Stark Phenotypes for gene: ALG13 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES. to Congenital disorder of glycosylation, type Is (MIM# 300884); Developmental and epileptic encephalopathy.
Fetal anomalies v0.828 ALG13 Zornitza Stark Publications for gene: ALG13 were set to
Fetal anomalies v0.827 ALG13 Zornitza Stark changed review comment from: More than 10 families reported.; to: More than 10 families reported. Typical presentation is with refractory seizures at around 6 months of age and developmental delay.

Majority of affected individuals have been females. Microcephaly reported in a male patient.
Fetal anomalies v0.827 ALG13 Zornitza Stark edited their review of gene: ALG13: Changed rating: AMBER
Fetal anomalies v0.827 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Fetal anomalies v0.827 ALG11 Zornitza Stark Gene: alg11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.827 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from ALG11-CDG to Congenital disorder of glycosylation, type Ip, MIM# 613661
Fetal anomalies v0.826 ALG11 Zornitza Stark changed review comment from: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems; to: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems

Onset is in first year of life, microcephaly rarely reported.
Fetal anomalies v0.826 ALG11 Zornitza Stark edited their review of gene: ALG11: Changed rating: AMBER
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Classified gene: MAPKAPK5 as Green List (high evidence)
Fetal anomalies v0.826 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Fetal anomalies v0.825 MAPKAPK5 Zornitza Stark gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 33442026
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Expert Review
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Publications for gene: NADSYN1 were set to
Fetal anomalies v0.823 GNS Ain Roesley reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.823 GRHL3 Ain Roesley reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.823 GRIP1 Ain Roesley reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.823 GTPBP3 Ain Roesley reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.822 NADSYN1 Zornitza Stark reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883644; Phenotypes: Multiple congenital abnormalities, absent kidneys, cardiac, limb, vertebral; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.822 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Fetal anomalies v0.822 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.822 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR
Fetal anomalies v0.821 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Fetal anomalies v0.820 DDR2 Zornitza Stark changed review comment from: ID is not really a feature of either condition association with this gene.; to: Severe perinatal onset skeletal dysplasia.
Fetal anomalies v0.820 DDR2 Zornitza Stark edited their review of gene: DDR2: Changed rating: GREEN; Changed publications: 19110212, 20223752; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.820 DCX Zornitza Stark Marked gene: DCX as ready
Fetal anomalies v0.820 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Fetal anomalies v0.820 DCX Zornitza Stark Phenotypes for gene: DCX were changed from LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Fetal anomalies v0.819 DCX Zornitza Stark Publications for gene: DCX were set to
Fetal anomalies v0.818 DCX Zornitza Stark changed review comment from: Well established gene-disease association.; to: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported.
Fetal anomalies v0.818 DCX Zornitza Stark edited their review of gene: DCX: Changed phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067
Fetal anomalies v0.818 DCX Zornitza Stark edited their review of gene: DCX: Changed publications: 20301364, 10915612, 9489699, 12552055; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.818 DCX Zornitza Stark changed review comment from: Contractures are secondary to tone abnormalities, and are not a prominent/key feature.; to: Well established gene-disease association.
Fetal anomalies v0.818 DCX Zornitza Stark edited their review of gene: DCX: Changed rating: GREEN
Fetal anomalies v0.818 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Fetal anomalies v0.818 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.818 AKT2 Zornitza Stark Mode of pathogenicity for gene: AKT2 was changed from to Other
Fetal anomalies v0.817 AKT2 Zornitza Stark Classified gene: AKT2 as Green List (high evidence)
Fetal anomalies v0.817 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.816 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21979934; Phenotypes: Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.816 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Fetal anomalies v0.816 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.816 AIMP1 Zornitza Stark Phenotypes for gene: AIMP1 were changed from LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, MIM# 260600
Fetal anomalies v0.815 AIMP1 Zornitza Stark Publications for gene: AIMP1 were set to
Fetal anomalies v0.814 AIMP1 Zornitza Stark Classified gene: AIMP1 as Green List (high evidence)
Fetal anomalies v0.814 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.813 AIMP1 Zornitza Stark edited their review of gene: AIMP1: Changed rating: GREEN
Fetal anomalies v0.813 AIMP1 Zornitza Stark changed review comment from: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.; to: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.

Progressive disorder, typical onset is in the first few months of life, microcephaly and joint contractures are features.
Fetal anomalies v0.813 AIMP1 Zornitza Stark edited their review of gene: AIMP1: Changed rating: AMBER
Fetal anomalies v0.813 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Fetal anomalies v0.813 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.813 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COWCHOCK SYNDROME to Combined oxidative phosphorylation deficiency 6, MIM# 300816; Cowchock syndrome, MIM# 310490; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232
Fetal anomalies v0.812 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, MIM# 300816, Cowchock syndrome, MIM# 310490, Deafness, X-linked 5, MIM# 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.812 AHCY Zornitza Stark Marked gene: AHCY as ready
Fetal anomalies v0.812 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.812 AHCY Zornitza Stark Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 to S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Fetal anomalies v0.811 AHCY Zornitza Stark edited their review of gene: AHCY: Changed rating: AMBER
Fetal anomalies v0.811 AHCY Zornitza Stark Deleted their comment
Fetal anomalies v0.811 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Fetal anomalies v0.811 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Fetal anomalies v0.811 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, MIM# 619297
Fetal anomalies v0.810 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Fetal anomalies v0.809 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.808 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Fetal anomalies v0.808 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Fetal anomalies v0.807 ADAMTS3 Zornitza Stark Marked gene: ADAMTS3 as ready
Fetal anomalies v0.807 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Fetal anomalies v0.807 ADAMTS3 Zornitza Stark Phenotypes for gene: ADAMTS3 were changed from Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564 to Hennekam lymphangiectasia-lymphoedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphoedema syndrome 3, MONDO:0032564
Fetal anomalies v0.806 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Green List (high evidence)
Fetal anomalies v0.806 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Fetal anomalies v0.805 ADAMTS3 Zornitza Stark changed review comment from: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth.
Sources: Expert list; to: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. Supportive functional data.
Sources: Expert list
Fetal anomalies v0.805 ADAMTS3 Zornitza Stark edited their review of gene: ADAMTS3: Changed phenotypes: Hennekam lymphangiectasia-lymphoedema syndrome 3, MIM# 618154
Fetal anomalies v0.805 ADAMTS3 Zornitza Stark edited their review of gene: ADAMTS3: Changed rating: GREEN; Changed phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154
Fetal anomalies v0.805 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease
Fetal anomalies v0.804 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to 16642017
Fetal anomalies v0.803 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Fetal anomalies v0.803 ACVR1 Zornitza Stark edited their review of gene: ACVR1: Changed publications: 16642017, 29089047
Fetal anomalies v0.803 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Fetal anomalies v0.803 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.803 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from FIBRODYSPLASIA OSSIFICANS PROGRESSIVA to Fibrodysplasia ossificans progressiva, MIM# 135100
Fetal anomalies v0.802 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Fetal anomalies v0.801 ACVR1 Zornitza Stark Mode of inheritance for gene: ACVR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.800 ACVR1 Zornitza Stark Classified gene: ACVR1 as Green List (high evidence)
Fetal anomalies v0.800 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.799 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Phenotypes for gene: ELOVL4 were changed from ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION to Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457
Fetal anomalies v0.798 ELOVL4 Zornitza Stark Publications for gene: ELOVL4 were set to
Fetal anomalies v0.797 ELOVL4 Zornitza Stark reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.797 MYH8 Zornitza Stark Marked gene: MYH8 as ready
Fetal anomalies v0.797 MYH8 Zornitza Stark Gene: myh8 has been classified as Green List (High Evidence).
Fetal anomalies v0.797 MYH8 Zornitza Stark Phenotypes for gene: MYH8 were changed from CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE to Trismus-pseudocamptodactyly syndrome (MIM#158300)
Fetal anomalies v0.796 MYH8 Zornitza Stark Publications for gene: MYH8 were set to
Fetal anomalies v0.795 MYH8 Zornitza Stark Mode of inheritance for gene: MYH8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.794 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Fetal anomalies v0.794 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Fetal anomalies v0.794 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351)
Fetal anomalies v0.793 MYH11 Zornitza Stark Publications for gene: MYH11 were set to 29575632; 25407000; 31427716
Fetal anomalies v0.792 MYH11 Zornitza Stark Mode of pathogenicity for gene: MYH11 was changed from to Other
Fetal anomalies v0.791 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.790 MYH10 Zornitza Stark Marked gene: MYH10 as ready
Fetal anomalies v0.790 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Fetal anomalies v0.790 MYH10 Zornitza Stark Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis; Microcephaly; Hip dysplasia
Fetal anomalies v0.789 MYH10 Zornitza Stark Publications for gene: MYH10 were set to 30712878
Fetal anomalies v0.788 MYH10 Zornitza Stark Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.787 MYCN Zornitza Stark Marked gene: MYCN as ready
Fetal anomalies v0.787 MYCN Zornitza Stark Gene: mycn has been classified as Green List (High Evidence).
Fetal anomalies v0.787 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1 (MIM#164280)
Fetal anomalies v0.786 MYCN Zornitza Stark Publications for gene: MYCN were set to
Fetal anomalies v0.785 MYCN Zornitza Stark Mode of inheritance for gene: MYCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.784 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Fetal anomalies v0.784 MSX2 Zornitza Stark Gene: msx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.784 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM; CRANIOSYNOSTOSIS, TYPE 2 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Fetal anomalies v0.783 MSX2 Zornitza Stark Publications for gene: MSX2 were set to
Fetal anomalies v0.782 MSX2 Zornitza Stark Mode of inheritance for gene: MSX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.781 MSX1 Zornitza Stark Marked gene: MSX1 as ready
Fetal anomalies v0.781 MSX1 Zornitza Stark Gene: msx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.781 MSX1 Zornitza Stark Phenotypes for gene: MSX1 were changed from CLEFT LIP +/- CLEFT PALATE to Orofacial cleft 5 (MIM#608874)
Fetal anomalies v0.780 MSX1 Zornitza Stark Publications for gene: MSX1 were set to
Fetal anomalies v0.779 MSX1 Zornitza Stark Mode of inheritance for gene: MSX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.778 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Fetal anomalies v0.778 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Fetal anomalies v0.778 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 to Combined oxidative phosphorylation deficiency 5 (MIM#611719)
Fetal anomalies v0.777 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to 28425981
Fetal anomalies v0.776 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Fetal anomalies v0.776 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Fetal anomalies v0.776 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from MOLYBDENUM COFACTOR DEFICIENCY to Molybdenum cofactor deficiency B (MIM#252160)
Fetal anomalies v0.775 MOCS2 Zornitza Stark Publications for gene: MOCS2 were set to
Fetal anomalies v0.774 ELOVL4 Belinda Chong changed review comment from: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. 5 unrelated families reported, seizures in at least 4 of the families.

OMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).

OMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects; to: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. 5 unrelated families reported, seizures in at least 4 of the families.

OMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).

OMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects
Fetal anomalies v0.774 ELOVL4 Belinda Chong reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24566826, 26258735, 30065956, 22100072, 24571530, 33652762, 10634627, 8002834; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457, Spinocerebellar ataxia 34 MIM#133190, Stargardt disease 3 MIM#600110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.774 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Fetal anomalies v0.774 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.774 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , MIM#300387
Fetal anomalies v0.773 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Fetal anomalies v0.772 ACSL4 Zornitza Stark Classified gene: ACSL4 as Green List (high evidence)
Fetal anomalies v0.772 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.771 ACSL4 Zornitza Stark changed review comment from: Comment when marking as ready: At least three unrelated individuals reported.; to: Comment when marking as ready: At least three unrelated individuals reported. Microcephaly reported.
Fetal anomalies v0.771 ACSL4 Zornitza Stark edited their review of gene: ACSL4: Changed rating: GREEN
Fetal anomalies v0.771 ELN Belinda Chong reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866049 31560829 19844261 19844261; Phenotypes: Cutis laxa 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.771 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Fetal anomalies v0.771 ACO2 Zornitza Stark Gene: aco2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.771 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, MIM# 614559
Fetal anomalies v0.770 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Fetal anomalies v0.769 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519; Phenotypes: Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.769 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Fetal anomalies v0.769 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.769 ABL1 Zornitza Stark Publications for gene: ABL1 were set to
Fetal anomalies v0.768 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.767 ABL1 Zornitza Stark Classified gene: ABL1 as Green List (high evidence)
Fetal anomalies v0.767 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.766 MYH8 Daniel Flanagan reviewed gene: MYH8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20949528, 17041932, 15282353; Phenotypes: Trismus-pseudocamptodactyly syndrome (MIM#158300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 MYH11 Daniel Flanagan reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31944481, 30071989, 16444274, 17666408, 27081537; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.766 MYH10 Daniel Flanagan reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24825879, 24901346, 25356899, 22495309, 25003005; Phenotypes: Microcephaly, Hip dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 MYCN Daniel Flanagan reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18470948; Phenotypes: Feingold syndrome 1 (MIM#164280); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Fetal anomalies v0.766 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.766 ABCD4 Zornitza Stark Phenotypes for gene: ABCD4 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE to Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857
Fetal anomalies v0.765 ABCD4 Zornitza Stark Publications for gene: ABCD4 were set to
Fetal anomalies v0.764 ABCD4 Zornitza Stark changed review comment from: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and hematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.

At least 6 affected individuals reported.; to: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and haematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.

At least 6 affected individuals reported.

Congenital anomalies are very rarely reported, uncertain if they are part of the phenotype.
Fetal anomalies v0.764 ABCD4 Zornitza Stark edited their review of gene: ABCD4: Changed rating: AMBER
Fetal anomalies v0.764 AASS Zornitza Stark Marked gene: AASS as ready
Fetal anomalies v0.764 AASS Zornitza Stark Gene: aass has been classified as Red List (Low Evidence).
Fetal anomalies v0.764 AASS Zornitza Stark Classified gene: AASS as Red List (low evidence)
Fetal anomalies v0.764 AASS Zornitza Stark Gene: aass has been classified as Red List (Low Evidence).
Fetal anomalies v0.763 AASS Zornitza Stark changed review comment from: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.; to: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.

Given the uncertainty about whether this is a disease entity and lack of associated congenital anomalies or other features that would be detectable in the prenatal setting, downgraded to RED on this panel.
Fetal anomalies v0.763 AASS Zornitza Stark edited their review of gene: AASS: Changed rating: RED
Fetal anomalies v0.763 AARS Zornitza Stark Tag new gene name tag was added to gene: AARS.
Fetal anomalies v0.763 AARS Zornitza Stark Marked gene: AARS as ready
Fetal anomalies v0.763 AARS Zornitza Stark Gene: aars has been classified as Green List (High Evidence).
Fetal anomalies v0.763 AARS Zornitza Stark Publications for gene: AARS were set to
Fetal anomalies v0.762 AARS Zornitza Stark Classified gene: AARS as Green List (high evidence)
Fetal anomalies v0.762 AARS Zornitza Stark Gene: aars has been classified as Green List (High Evidence).
Fetal anomalies v0.761 MSX2 Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.761 MSX1 Daniel Flanagan reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742093, 12807959; Phenotypes: Orofacial cleft 5 (MIM#608874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.761 MRPS22 Daniel Flanagan reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21189481, 17873122, 25663021; Phenotypes: Combined oxidative phosphorylation deficiency 5 (MIM#611719); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.761 MOCS2 Daniel Flanagan reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10053004, 31848698, 16021469, 30900395; Phenotypes: Molybdenum cofactor deficiency B (MIM#252160); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.761 DARS Zornitza Stark changed review comment from: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.; to: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord.

HGNC approved name DARS1.
Fetal anomalies v0.761 DARS Zornitza Stark Marked gene: DARS as ready
Fetal anomalies v0.761 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Fetal anomalies v0.761 DARS Zornitza Stark Phenotypes for gene: DARS were changed from HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Fetal anomalies v0.760 DARS Zornitza Stark Publications for gene: DARS were set to
Fetal anomalies v0.759 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Fetal anomalies v0.759 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Fetal anomalies v0.759 DAG1 Zornitza Stark Gene: dag1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.759 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Fetal anomalies v0.758 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Fetal anomalies v0.757 DAG1 Zornitza Stark Classified gene: DAG1 as Amber List (moderate evidence)
Fetal anomalies v0.757 DAG1 Zornitza Stark Gene: dag1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.756 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25934851, 24052401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.756 CYP21A2 Zornitza Stark Tag SV/CNV tag was added to gene: CYP21A2.
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 56, autosomal recessive, MIM#615030
Fetal anomalies v0.755 CYP2U1 Zornitza Stark Classified gene: CYP2U1 as Red List (low evidence)
Fetal anomalies v0.755 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.754 CYP2U1 Zornitza Stark changed review comment from: Neurodegenerative condition rather than truly ID.; to: Neurodegenerative condition with onset in the first decade.
Fetal anomalies v0.754 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Fetal anomalies v0.754 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.754 CYP21A2 Zornitza Stark Phenotypes for gene: CYP21A2 were changed from Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910
Fetal anomalies v0.753 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.753 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
Fetal anomalies v0.753 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.753 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from PRIMARY CONGENITAL GLAUCOMA TYPE 3A to Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300
Fetal anomalies v0.752 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Fetal anomalies v0.751 CYP1B1 Zornitza Stark Mode of inheritance for gene: CYP1B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.750 CYP1B1 Zornitza Stark reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32224865; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.750 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Fetal anomalies v0.750 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.750 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Fetal anomalies v0.749 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Fetal anomalies v0.748 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762, 14671162, 2026124; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.748 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Fetal anomalies v0.748 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.748 CYP11B1 Zornitza Stark Phenotypes for gene: CYP11B1 were changed from Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Fetal anomalies v0.747 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Fetal anomalies v0.746 CYP11B1 Zornitza Stark Mode of inheritance for gene: CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.745 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8768848; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.745 CYP11A1 Zornitza Stark edited their review of gene: CYP11A1: Changed publications: 12161514, 16705068, 18182448, 28425981
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Fetal anomalies v0.744 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to 28425981
Fetal anomalies v0.743 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.743 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Fetal anomalies v0.743 CWC27 Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence).
Fetal anomalies v0.743 CWC27 Zornitza Stark Phenotypes for gene: CWC27 were changed from Retinitis pigmentosa, skeletal anomalies and intellectual disability to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Fetal anomalies v0.742 CWC27 Zornitza Stark Publications for gene: CWC27 were set to 28285769
Fetal anomalies v0.741 CWC27 Zornitza Stark reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: 28285769, 31481716; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.741 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Fetal anomalies v0.741 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Fetal anomalies v0.741 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M SYNDROME 1 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome
Fetal anomalies v0.740 CUL7 Zornitza Stark Publications for gene: CUL7 were set to
Fetal anomalies v0.739 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.739 PPIB Zornitza Stark Marked gene: PPIB as ready
Fetal anomalies v0.739 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Fetal anomalies v0.739 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from Osteogenesis imperfecta, type IX 259440 to Osteogenesis imperfecta, type IX, MIM# 259440
Fetal anomalies v0.738 PPIB Zornitza Stark Publications for gene: PPIB were set to
Fetal anomalies v0.737 PPIB Naomi Baker changed review comment from: Well established gene-disease association with lethal or severe phenotype.

PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.

PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.; to: Well established gene-disease association with lethal or severe OI phenotype.

PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.

PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.
Fetal anomalies v0.737 PPIB Naomi Baker reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.737 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Fetal anomalies v0.737 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Fetal anomalies v0.737 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY to Combined oxidative phosphorylation deficiency 17, MIM#615440
Fetal anomalies v0.736 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Fetal anomalies v0.735 ELAC2 Belinda Chong reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17 MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.735 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Fetal anomalies v0.735 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Fetal anomalies v0.735 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Fetal anomalies v0.734 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Fetal anomalies v0.733 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.733 CTSK Zornitza Stark Marked gene: CTSK as ready
Fetal anomalies v0.733 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Fetal anomalies v0.733 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from PYCNODYSOSTOSIS to Pycnodysostosis, MIM# 265800
Fetal anomalies v0.732 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.732 CTSD Zornitza Stark Marked gene: CTSD as ready
Fetal anomalies v0.732 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Fetal anomalies v0.732 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
Fetal anomalies v0.731 CTSD Zornitza Stark Publications for gene: CTSD were set to
Fetal anomalies v0.730 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 1558577; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.729 CTSA Zornitza Stark Marked gene: CTSA as ready
Fetal anomalies v0.729 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Fetal anomalies v0.729 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from GALACTOSIALIDOSIS to Galactosialidosis, MIM# 256540
Fetal anomalies v0.728 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7759227; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 to Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
Fetal anomalies v0.727 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to 27915094
Fetal anomalies v0.726 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.725 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 24614104, 25326669, 27915094; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.725 CTCF Zornitza Stark Marked gene: CTCF as ready
Fetal anomalies v0.725 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Fetal anomalies v0.725 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 21 (MIM#615502)
Fetal anomalies v0.724 CTCF Zornitza Stark Publications for gene: CTCF were set to
Fetal anomalies v0.723 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.723 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.722 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Fetal anomalies v0.722 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.722 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Fetal anomalies v0.721 CTC1 Zornitza Stark Publications for gene: CTC1 were set to
Fetal anomalies v0.720 CTC1 Zornitza Stark Deleted their comment
Fetal anomalies v0.720 CTC1 Zornitza Stark edited their review of gene: CTC1: Added comment: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia.

Multiple families reported.; Changed rating: GREEN; Changed publications: 22267198
Fetal anomalies v0.720 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Fetal anomalies v0.720 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.720 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Fetal anomalies v0.719 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Fetal anomalies v0.718 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Fetal anomalies v0.718 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.718 CSNK2A1 Zornitza Stark Phenotypes for gene: CSNK2A1 were changed from CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062 to Okur-Chung neurodevelopmental syndrome, MIM# 617062
Fetal anomalies v0.717 CSNK2A1 Zornitza Stark Publications for gene: CSNK2A1 were set to
Fetal anomalies v0.716 CSNK2A1 Zornitza Stark Mode of inheritance for gene: CSNK2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.715 CSNK2A1 Zornitza Stark reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27048600, 29240241, 29383814; Phenotypes: Okur-Chung neurodevelopmental syndrome, MIM# 617062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.715 CRYGD Zornitza Stark Marked gene: CRYGD as ready
Fetal anomalies v0.715 CRYGD Zornitza Stark Gene: crygd has been classified as Green List (High Evidence).
Fetal anomalies v0.715 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3 to Cataract 4, multiple types, MIM# 115700
Fetal anomalies v0.714 CRYGD Zornitza Stark Publications for gene: CRYGD were set to
Fetal anomalies v0.713 CRYGD Zornitza Stark Mode of inheritance for gene: CRYGD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.712 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.712 CRYGC Zornitza Stark Marked gene: CRYGC as ready
Fetal anomalies v0.712 CRYGC Zornitza Stark Gene: crygc has been classified as Green List (High Evidence).
Fetal anomalies v0.712 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from CATARACT AUTOSOMAL DOMINANT to Cataract 2, multiple types, MIM# 604307
Fetal anomalies v0.711 CRYGC Zornitza Stark Publications for gene: CRYGC were set to
Fetal anomalies v0.710 CRYGC Zornitza Stark Mode of inheritance for gene: CRYGC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.709 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Marked gene: CRYBB3 as ready
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Gene: crybb3 has been classified as Green List (High Evidence).
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 to Cataract 22, MIM# 609741
Fetal anomalies v0.708 CRYBB3 Zornitza Stark Publications for gene: CRYBB3 were set to
Fetal anomalies v0.707 CRYBB3 Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.706 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2 to Cataract 3, multiple types, MIM# 601547
Fetal anomalies v0.705 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Fetal anomalies v0.704 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.703 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Marked gene: CRYBB1 as ready
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Gene: crybb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to Cataract 17, multiple types, MIM# 611544
Fetal anomalies v0.702 CRYBB1 Zornitza Stark Publications for gene: CRYBB1 were set to
Fetal anomalies v0.701 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.701 CRYBA4 Zornitza Stark Marked gene: CRYBA4 as ready
Fetal anomalies v0.701 CRYBA4 Zornitza Stark Gene: cryba4 has been classified as Green List (High Evidence).
Fetal anomalies v0.701 CRYBA4 Zornitza Stark Phenotypes for gene: CRYBA4 were changed from CATARACT ZONULAR TYPE 2 to Cataract 23, MIM# 610425
Fetal anomalies v0.700 CRYBA4 Zornitza Stark Publications for gene: CRYBA4 were set to
Fetal anomalies v0.699 CRYBA4 Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.698 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.698 CRYBA1 Zornitza Stark Marked gene: CRYBA1 as ready
Fetal anomalies v0.698 CRYBA1 Zornitza Stark Gene: cryba1 has been classified as Green List (High Evidence).
Fetal anomalies v0.698 CRYBA1 Zornitza Stark Phenotypes for gene: CRYBA1 were changed from CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES to Cataract 10, multiple types, MIM# 600881
Fetal anomalies v0.697 CRYBA1 Zornitza Stark Publications for gene: CRYBA1 were set to
Fetal anomalies v0.696 CRYBA1 Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.695 CRYBA1 Zornitza Stark reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.695 CRYAA Zornitza Stark Marked gene: CRYAA as ready
Fetal anomalies v0.695 CRYAA Zornitza Stark Gene: cryaa has been classified as Green List (High Evidence).
Fetal anomalies v0.695 CRYAA Zornitza Stark Phenotypes for gene: CRYAA were changed from CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR to Cataract 9, multiple types, MIM# 604219
Fetal anomalies v0.694 CRYAA Zornitza Stark Publications for gene: CRYAA were set to
Fetal anomalies v0.693 CRYAA Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.693 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Fetal anomalies v0.693 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Fetal anomalies v0.693 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII 610682 to Osteogenesis imperfecta, type VII, MIM# 610682
Fetal anomalies v0.692 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Fetal anomalies v0.691 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Fetal anomalies v0.691 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Fetal anomalies v0.691 EIF2AK3 Zornitza Stark Phenotypes for gene: EIF2AK3 were changed from WOLCOTT-RALLISON SYNDROME to Wolcott-Rallison syndrome MIM#226980
Fetal anomalies v0.690 EIF2AK3 Zornitza Stark Publications for gene: EIF2AK3 were set to
Fetal anomalies v0.689 EIF2AK3 Zornitza Stark reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.689 EIF2AK3 Belinda Chong reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 10932183, 7551159, 16813601; Phenotypes: Wolcott-Rallison syndrome MIM#226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.689 EDNRA Zornitza Stark Marked gene: EDNRA as ready
Fetal anomalies v0.689 EDNRA Zornitza Stark Gene: ednra has been classified as Green List (High Evidence).
Fetal anomalies v0.689 EDNRA Zornitza Stark Phenotypes for gene: EDNRA were changed from MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA to Mandibulofacial dysostosis with alopecia, MIM# 616367
Fetal anomalies v0.688 EDNRA Zornitza Stark Publications for gene: EDNRA were set to
Fetal anomalies v0.687 EDA Zornitza Stark Marked gene: EDA as ready
Fetal anomalies v0.687 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Fetal anomalies v0.687 EDA Zornitza Stark Phenotypes for gene: EDA were changed from ECTODERMAL DYSPLASIA TYPE 1; TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 to Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100; MONDO:0010585
Fetal anomalies v0.686 EDA Zornitza Stark Publications for gene: EDA were set to
Fetal anomalies v0.685 EDA Zornitza Stark Classified gene: EDA as Red List (low evidence)
Fetal anomalies v0.685 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Fetal anomalies v0.684 EDA Zornitza Stark reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.684 EDNRA Belinda Chong reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.684 EDA Belinda Chong reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29694819, 19921643, 18510547, 9507389; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100, MONDO:0010585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.684 DVL3 Zornitza Stark Marked gene: DVL3 as ready
Fetal anomalies v0.684 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.684 DVL3 Zornitza Stark Phenotypes for gene: DVL3 were changed from AUTOSOMAL-DOMINANT ROBINOW SYNDROME to Robinow syndrome, autosomal dominant 3 MIM#616894
Fetal anomalies v0.683 DVL3 Zornitza Stark Publications for gene: DVL3 were set to
Fetal anomalies v0.682 DVL3 Zornitza Stark Mode of inheritance for gene: DVL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.681 EN1 Zornitza Stark Marked gene: EN1 as ready
Fetal anomalies v0.681 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Fetal anomalies v0.681 EN1 Zornitza Stark Tag SV/CNV tag was added to gene: EN1.
Tag 5'UTR tag was added to gene: EN1.
Fetal anomalies v0.681 EN1 Zornitza Stark Phenotypes for gene: EN1 were changed from ?ENDOVE syndrome, limb-brain type - OMIM#619218 to ENDOVE syndrome, limb-brain type - OMIM#619218
Fetal anomalies v0.680 EN1 Zornitza Stark Classified gene: EN1 as Green List (high evidence)
Fetal anomalies v0.680 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Fetal anomalies v0.679 SLC30A5 Zornitza Stark Marked gene: SLC30A5 as ready
Fetal anomalies v0.679 SLC30A5 Zornitza Stark Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.679 SLC30A5 Zornitza Stark Classified gene: SLC30A5 as Amber List (moderate evidence)
Fetal anomalies v0.679 SLC30A5 Zornitza Stark Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.678 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Fetal anomalies v0.678 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Fetal anomalies v0.678 SCN5A Zornitza Stark Classified gene: SCN5A as Green List (high evidence)
Fetal anomalies v0.678 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Fetal anomalies v0.677 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Fetal anomalies v0.677 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.677 PRF1 Zornitza Stark Phenotypes for gene: PRF1 were changed from Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553 to Aplastic anaemia - #609135; Haemophagocytic lymphohistiocytosis, familial, 2 - #603553
Fetal anomalies v0.676 PRF1 Zornitza Stark Classified gene: PRF1 as Green List (high evidence)
Fetal anomalies v0.676 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.675 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Fetal anomalies v0.675 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Fetal anomalies v0.675 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835 to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835
Fetal anomalies v0.674 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835 to Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835
Fetal anomalies v0.673 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Fetal anomalies v0.673 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Fetal anomalies v0.672 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Fetal anomalies v0.672 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Green List (High Evidence).
Fetal anomalies v0.672 ALPK3 Zornitza Stark Classified gene: ALPK3 as Green List (high evidence)
Fetal anomalies v0.672 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Green List (High Evidence).
Fetal anomalies v0.671 ZBTB42 Zornitza Stark Marked gene: ZBTB42 as ready
Fetal anomalies v0.671 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.671 ZBTB42 Zornitza Stark Phenotypes for gene: ZBTB42 were changed from ?Lethal congenital contracture syndrome 6- #616248 to Lethal congenital contracture syndrome 6- #616248
Fetal anomalies v0.670 ZBTB42 Zornitza Stark Classified gene: ZBTB42 as Amber List (moderate evidence)
Fetal anomalies v0.670 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.669 UNC50 Zornitza Stark Marked gene: UNC50 as ready
Fetal anomalies v0.669 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.669 UNC50 Zornitza Stark Phenotypes for gene: UNC50 were changed from to Arthrogryposis multiplex congenita
Fetal anomalies v0.668 UNC50 Zornitza Stark Classified gene: UNC50 as Amber List (moderate evidence)
Fetal anomalies v0.668 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.667 UNC50 Zornitza Stark edited their review of gene: UNC50: Added comment: Supportive functional data.; Changed rating: AMBER
Fetal anomalies v0.667 UNC50 Zornitza Stark reviewed gene: UNC50: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.667 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Fetal anomalies v0.667 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.667 TOR1AIP1 Zornitza Stark Phenotypes for gene: TOR1AIP1 were changed from ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome
Fetal anomalies v0.666 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Fetal anomalies v0.666 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.665 TOR1AIP1 Zornitza Stark reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.665 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Fetal anomalies v0.665 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Fetal anomalies v0.665 STIM1 Zornitza Stark Classified gene: STIM1 as Green List (high evidence)
Fetal anomalies v0.665 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Fetal anomalies v0.664 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Fetal anomalies v0.664 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.664 SCYL2 Zornitza Stark Classified gene: SCYL2 as Amber List (moderate evidence)
Fetal anomalies v0.664 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.662 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.662 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Fetal anomalies v0.662 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Fetal anomalies v0.662 ORAI1 Zornitza Stark Classified gene: ORAI1 as Green List (high evidence)
Fetal anomalies v0.662 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Fetal anomalies v0.661 MYLPF Zornitza Stark Marked gene: MYLPF as ready
Fetal anomalies v0.661 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.661 MYLPF Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence)
Fetal anomalies v0.661 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.660 MYLPF Zornitza Stark reviewed gene: MYLPF: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.660 DVL3 Belinda Chong reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924530; Phenotypes: Robinow syndrome, autosomal dominant 3 MIM#616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.660 EN1 Krithika Murali gene: EN1 was added
gene: EN1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ?ENDOVE syndrome, limb-brain type - OMIM#619218
Review for gene: EN1 was set to GREEN
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Expert list, Literature
Fetal anomalies v0.660 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Fetal anomalies v0.660 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Fetal anomalies v0.660 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from RENAL-COLOBOMA SYNDROME to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352
Fetal anomalies v0.659 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Fetal anomalies v0.658 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.657 PAX2 Zornitza Stark edited their review of gene: PAX2: Added comment: Microphthalmia and CAKUT are reported features.; Changed rating: GREEN; Changed phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352
Fetal anomalies v0.657 PAX2 Zornitza Stark Deleted their comment
Fetal anomalies v0.657 PARN Zornitza Stark Marked gene: PARN as ready
Fetal anomalies v0.657 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Fetal anomalies v0.657 PARN Zornitza Stark Phenotypes for gene: PARN were changed from Dyskeratosis congenita, autosomal recessive 6 to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Fetal anomalies v0.656 PARN Zornitza Stark Publications for gene: PARN were set to
Fetal anomalies v0.655 PARN Zornitza Stark edited their review of gene: PARN: Changed phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.655 PARN Zornitza Stark reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.655 MMP13 Zornitza Stark Marked gene: MMP13 as ready
Fetal anomalies v0.655 MMP13 Zornitza Stark Gene: mmp13 has been classified as Green List (High Evidence).
Fetal anomalies v0.655 MMP13 Zornitza Stark Phenotypes for gene: MMP13 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE; METAPHYSEAL ANADYSPLASIA TYPE 1 to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400)
Fetal anomalies v0.654 SLC30A5 Krithika Murali gene: SLC30A5 was added
gene: SLC30A5 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919
Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy
Review for gene: SLC30A5 was set to AMBER
Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia.
Sources: Expert list, Literature
Fetal anomalies v0.654 MMP13 Zornitza Stark Publications for gene: MMP13 were set to
Fetal anomalies v0.653 MMP13 Zornitza Stark Mode of pathogenicity for gene: MMP13 was changed from to Other
Fetal anomalies v0.652 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Fetal anomalies v0.652 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.652 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from AUTOSOMAL-DOMINANT ROBINOW SYNDROME to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Fetal anomalies v0.651 DVL1 Zornitza Stark Publications for gene: DVL1 were set to
Fetal anomalies v0.650 SCN5A Krithika Murali gene: SCN5A was added
gene: SCN5A was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 22064211; 15184283; 19419784
Phenotypes for gene: SCN5A were set to Sudden infant death syndrome, susceptibility to - #272120; Long QT syndrome 3 - #603830
Review for gene: SCN5A was set to GREEN
Added comment: Three families reported with severe perinatal presentation, including hydrops
Sources: Expert list, Literature
Fetal anomalies v0.650 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.649 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Fetal anomalies v0.649 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.649 KRIT1 Zornitza Stark Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 to Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860
Fetal anomalies v0.648 KRIT1 Zornitza Stark Publications for gene: KRIT1 were set to 28749478
Fetal anomalies v0.647 KRIT1 Zornitza Stark Mode of inheritance for gene: KRIT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.646 KRIT1 Zornitza Stark Classified gene: KRIT1 as Amber List (moderate evidence)
Fetal anomalies v0.646 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.645 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Fetal anomalies v0.645 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.645 KIF22 Zornitza Stark reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.645 KIF22 Zornitza Stark Marked gene: KIF22 as ready
Fetal anomalies v0.645 KIF22 Zornitza Stark Gene: kif22 has been classified as Green List (High Evidence).
Fetal anomalies v0.645 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis to Dyserythropoietic anaemia, congenital, type IV MIM#613673
Fetal anomalies v0.644 KIF22 Zornitza Stark Phenotypes for gene: KIF22 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546
Fetal anomalies v0.643 PRF1 Krithika Murali gene: PRF1 was added
gene: PRF1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553
Review for gene: PRF1 was set to GREEN
Added comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)
PMID: 19595804

Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period
PMID: 26199792

Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites
PMID: 30070073
Sources: Expert list, Literature
Fetal anomalies v0.643 KIF22 Zornitza Stark Publications for gene: KIF22 were set to
Fetal anomalies v0.642 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.641 KIF22 Zornitza Stark Mode of pathogenicity for gene: KIF22 was changed from to Other
Fetal anomalies v0.640 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Fetal anomalies v0.640 MMADHC Zornitza Stark Gene: mmadhc has been classified as Red List (Low Evidence).
Fetal anomalies v0.640 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD to Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410)
Fetal anomalies v0.639 MMADHC Zornitza Stark Publications for gene: MMADHC were set to
Fetal anomalies v0.638 MMADHC Zornitza Stark Classified gene: MMADHC as Red List (low evidence)
Fetal anomalies v0.638 MMADHC Zornitza Stark Gene: mmadhc has been classified as Red List (Low Evidence).
Fetal anomalies v0.637 GATA1 Krithika Murali gene: GATA1 was added
gene: GATA1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180
Phenotypes for gene: GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835
Review for gene: GATA1 was set to GREEN
Added comment: Can present with severe hydrops in utero requiring transfusion.
Sources: Expert list
Fetal anomalies v0.637 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Fetal anomalies v0.637 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Fetal anomalies v0.637 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822 to Alkuraya-Kucinskas syndrome MIM#617822
Fetal anomalies v0.636 KCTD1 Zornitza Stark Marked gene: KCTD1 as ready
Fetal anomalies v0.636 KCTD1 Zornitza Stark Gene: kctd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.636 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to 28749478; 30485398; 29290337
Fetal anomalies v0.635 KCTD1 Zornitza Stark Phenotypes for gene: KCTD1 were changed from SCALP-EAR-NIPPLE SYNDROME to Scalp-ear-nipple syndrome MIM#181270
Fetal anomalies v0.634 KCTD1 Zornitza Stark Publications for gene: KCTD1 were set to
Fetal anomalies v0.633 KCTD1 Zornitza Stark Classified gene: KCTD1 as Amber List (moderate evidence)
Fetal anomalies v0.633 KCTD1 Zornitza Stark Gene: kctd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.632 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Fetal anomalies v0.632 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Fetal anomalies v0.632 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE to Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400)
Fetal anomalies v0.631 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Fetal anomalies v0.630 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Fetal anomalies v0.630 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Fetal anomalies v0.630 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Fetal anomalies v0.629 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Fetal anomalies v0.628 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.627 MID1 Zornitza Stark Marked gene: MID1 as ready
Fetal anomalies v0.627 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Fetal anomalies v0.627 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Fetal anomalies v0.627 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.627 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)
Fetal anomalies v0.626 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from OPITZ G/BBB SYNDROME, X-LINKED to Opitz GBBB syndrome, type I (MIM#300000)
Fetal anomalies v0.625 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Fetal anomalies v0.624 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Fetal anomalies v0.624 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Fetal anomalies v0.624 MID1 Zornitza Stark Publications for gene: MID1 were set to
Fetal anomalies v0.623 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170
Fetal anomalies v0.622 KAT6A Zornitza Stark Marked gene: KAT6A as ready
Fetal anomalies v0.622 KAT6A Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence).
Fetal anomalies v0.622 KAT6B Zornitza Stark Publications for gene: KAT6B were set to
Fetal anomalies v0.621 KAT6A Zornitza Stark Phenotypes for gene: KAT6A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 to Arboleda-Tham syndrome MIM#616268
Fetal anomalies v0.620 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.619 KAT6A Zornitza Stark Publications for gene: KAT6A were set to
Fetal anomalies v0.618 MESP2 Zornitza Stark Marked gene: MESP2 as ready
Fetal anomalies v0.618 MESP2 Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.618 MESP2 Zornitza Stark Phenotypes for gene: MESP2 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)
Fetal anomalies v0.617 MESP2 Zornitza Stark Publications for gene: MESP2 were set to
Fetal anomalies v0.616 MEGF10 Zornitza Stark Marked gene: MEGF10 as ready
Fetal anomalies v0.616 MEGF10 Zornitza Stark Gene: megf10 has been classified as Green List (High Evidence).
Fetal anomalies v0.616 MEGF10 Zornitza Stark Phenotypes for gene: MEGF10 were changed from MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399)
Fetal anomalies v0.615 MEGF10 Zornitza Stark Publications for gene: MEGF10 were set to
Fetal anomalies v0.614 MEGF10 Zornitza Stark reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.614 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Fetal anomalies v0.614 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Fetal anomalies v0.614 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800 to IFAP syndrome with or without BRESHECK syndrome MIM#308205; Osteogenesis imperfecta, type XIX, MIM#301014
Fetal anomalies v0.613 MBTPS2 Zornitza Stark Publications for gene: MBTPS2 were set to
Fetal anomalies v0.612 ALPK3 Krithika Murali gene: ALPK3 was added
gene: ALPK3 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to PMID 26846950.
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27 - #618052
Review for gene: ALPK3 was set to GREEN
Added comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.

PMID 28630369 reports male infant diagnosed antenatally with cardiomyopathy after birth. Born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation.
Sources: Expert list, Literature
Fetal anomalies v0.612 ZBTB42 Krithika Murali gene: ZBTB42 was added
gene: ZBTB42 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB42 were set to 25055871
Phenotypes for gene: ZBTB42 were set to ?Lethal congenital contracture syndrome 6- #616248
Review for gene: ZBTB42 was set to AMBER
Added comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert list, Literature
Fetal anomalies v0.612 UNC50 Krithika Murali reviewed gene: UNC50: Rating: ; Mode of pathogenicity: None; Publications: 29016857, 33820833; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: None
Fetal anomalies v0.612 UNC50 Krithika Murali gene: UNC50 was added
gene: UNC50 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Fetal anomalies v0.612 TOR1AIP1 Krithika Murali gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 33215087; 32055997; 24856141; 31299614; 30723199; 27342937
Phenotypes for gene: TOR1AIP1 were set to ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome
Review for gene: TOR1AIP1 was set to GREEN
Added comment: Gene is associated with multiple muscle phenotypes. Phenotype highly variable. Single family myasthenic syndrome and supportive mouse model data.
Sources: Expert list, Literature
Fetal anomalies v0.612 PAX2 Dean Phelan reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, Renal coloboma syndrome, ventricular septal defect, skeletal deformity, ovarian teratoma, growth retardation, gout, microcephaly, developmental disorder, gonadal abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.612 STIM1 Krithika Murali gene: STIM1 was added
gene: STIM1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 31448844; 20876309
Phenotypes for gene: STIM1 were set to Immunodeficiency 10 - #612783; Myopathy, tubular aggregate, 1 - #160565; Stormorken syndrome - #185070
Review for gene: STIM1 was set to GREEN
Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence)

Dominant STIM1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)

Recessive STIM1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) --> presentations can be severe, death from disseminated Kaposi sarcoma in an HIV negative 2 year old F reported.

Highly variable phenotype - contractures have been reported in the more severely affected individuals.
Sources: Expert list, Literature
Fetal anomalies v0.612 SCYL2 Krithika Murali gene: SCYL2 was added
gene: SCYL2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum - #618766
Review for gene: SCYL2 was set to AMBER
Added comment: 2 unrelated consanguineous families reported with AMC (PMID: 31960134).
Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146).
Sources: Expert list, Literature
Fetal anomalies v0.612 PIP5K1C Krithika Murali gene: PIP5K1C was added
gene: PIP5K1C was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIP5K1C were set to 17701898
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3 - #611369
Review for gene: PIP5K1C was set to AMBER
Added comment: Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber.
Sources: Expert list, Literature
Fetal anomalies v0.612 ORAI1 Krithika Murali gene: ORAI1 was added
gene: ORAI1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 31448844
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 - #615883
Review for gene: ORAI1 was set to GREEN
Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Sources: Expert list, Literature
Fetal anomalies v0.612 MYLPF Krithika Murali gene: MYLPF was added
gene: MYLPF was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to Distal arthrogryposis type 1C (DA1C), MIM#619110
Review for gene: MYLPF was set to AMBER
Added comment: MYLPF gene variants associated with dominant and recessive distal arthrogryposis

6 consanguineous families - homozygous for c.470G>T (p.Cys157Phe) or c.469T>C (p.Cys157Arg) variants

7th family - hetrozygous c.487G>A (p.Gly163Ser) variant

8th family - hetrozygous c.98C>T (p.Ala33Val) variant
Sources: Expert list, Literature
Fetal anomalies v0.612 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
Fetal anomalies v0.612 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.612 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from Cold-induced sweating syndrome 1 272430 to Cold-induced sweating syndrome 1, MIM#272430
Fetal anomalies v0.611 CRLF1 Zornitza Stark Publications for gene: CRLF1 were set to
Fetal anomalies v0.610 CRLF1 Zornitza Stark Deleted their comment
Fetal anomalies v0.610 CRLF1 Zornitza Stark edited their review of gene: CRLF1: Added comment: Micrognathia, camptodactyly are features.

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis.

Multiple unrelated families reported.; Changed rating: GREEN; Changed publications: 12509788, 17436251, 17436252
Fetal anomalies v0.610 PARN Dean Phelan reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.609 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Fetal anomalies v0.609 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Fetal anomalies v0.609 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332
Fetal anomalies v0.608 CREBBP Zornitza Stark Publications for gene: CREBBP were set to
Fetal anomalies v0.607 CREBBP Zornitza Stark changed review comment from: Well established gene-disease association with RTS, deletions reasonably frequent. Menke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.; to: Well established gene-disease association with RTS, deletions reasonably frequent. Microcephaly is a feature.

Menke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.
Fetal anomalies v0.607 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Fetal anomalies v0.607 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.607 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE to Ventriculomegaly with cystic kidney disease, MIM# 219730
Fetal anomalies v0.606 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Fetal anomalies v0.605 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Fetal anomalies v0.605 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.605 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649 to CPT II deficiency, lethal neonatal, MIM# 608836
Fetal anomalies v0.604 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Fetal anomalies v0.603 CPT2 Zornitza Stark changed review comment from: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.

The most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects.

Some features such as microcephaly and polycystic kidneys may be detectable antenatally.; to: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.

The most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects.

Some features such as microcephaly and polycystic kidneys may be detectable antenatally.

Well established gene-disease association, multiple families reported.
Fetal anomalies v0.603 CPT2 Zornitza Stark edited their review of gene: CPT2: Changed publications: 11477613, 12410208
Fetal anomalies v0.603 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, lethal neonatal, MIM# 608836; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.603 COX7B Zornitza Stark Marked gene: COX7B as ready
Fetal anomalies v0.603 COX7B Zornitza Stark Gene: cox7b has been classified as Green List (High Evidence).
Fetal anomalies v0.603 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from MICROPHTHALMIA WITH LINEAR SKIN LESIONS to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Fetal anomalies v0.602 COX7B Zornitza Stark Publications for gene: COX7B were set to
Fetal anomalies v0.601 COX7B Zornitza Stark changed review comment from: Single report of 4 affected individuals in 2012, of whom only two had dev delay/ID.; to: Single report of 4 affected individuals in 2012, multiple congenital anomalies. XLD.
Fetal anomalies v0.601 COX7B Zornitza Stark edited their review of gene: COX7B: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.601 COX7B Zornitza Stark edited their review of gene: COX7B: Changed rating: GREEN
Fetal anomalies v0.601 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Fetal anomalies v0.601 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Fetal anomalies v0.601 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from COENZYME Q10 DEFICIENCY to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Fetal anomalies v0.600 COQ9 Zornitza Stark Publications for gene: COQ9 were set to 30712880
Fetal anomalies v0.599 COQ9 Zornitza Stark Deleted their comment
Fetal anomalies v0.599 COQ9 Zornitza Stark Deleted their comment
Fetal anomalies v0.599 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: At least 3 families and an animal model. Severe perinatal disorder.

Some had IUGR/HCM.; Changed publications: 19375058, 26081641, 23255162, 31821167
Fetal anomalies v0.599 COQ9 Zornitza Stark edited their review of gene: COQ9: Changed rating: GREEN
Fetal anomalies v0.599 IRF6 Ain Roesley edited their review of gene: IRF6: Changed publications: 20301581
Fetal anomalies v0.599 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Fetal anomalies v0.599 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Fetal anomalies v0.599 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from COENZYME Q10 DEFICIENCY, PRIMARY, 7 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Fetal anomalies v0.598 COQ4 Zornitza Stark Publications for gene: COQ4 were set to
Fetal anomalies v0.597 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.597 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Fetal anomalies v0.597 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Fetal anomalies v0.597 COLEC11 Zornitza Stark Phenotypes for gene: COLEC11 were changed from 3MC SYNDROME 2 to 3MC syndrome 2, MIM# 265050
Fetal anomalies v0.596 COLEC11 Zornitza Stark Publications for gene: COLEC11 were set to
Fetal anomalies v0.595 COLEC11 Zornitza Stark reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.595 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Fetal anomalies v0.595 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.595 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 to Stickler syndrome, type V, MIM# 614284
Fetal anomalies v0.594 COL9A2 Zornitza Stark Publications for gene: COL9A2 were set to
Fetal anomalies v0.593 COL9A2 Zornitza Stark Mode of inheritance for gene: COL9A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.592 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.592 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Fetal anomalies v0.592 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.592 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6; STICKLER SYNDROME TYPE 4 to Stickler syndrome, type IV, MIM# 614134
Fetal anomalies v0.591 COL9A1 Zornitza Stark Publications for gene: COL9A1 were set to
Fetal anomalies v0.590 COL9A1 Zornitza Stark Mode of inheritance for gene: COL9A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.589 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.589 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Fetal anomalies v0.589 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.589 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090
Fetal anomalies v0.588 COL6A3 Zornitza Stark Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.587 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.587 MMP13 Daniel Flanagan changed review comment from: At least 7 families described with either mono or biallelic variants reports.
Autosomal dominant metaphyseal anadysplasia has been described as more severe, with dominant-negative missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency. Recessive metaphyseal anadysplasia has been described as a milder form, caused by biallelic loss of function of either MMP9 or MMP13.; to: At least 7 families described with either mono (Metaphyseal anadysplasia) or biallelic (Metaphyseal dysplasia, Spahr type) variants reports.
Autosomal dominant metaphyseal anadysplasia has been described as more severe, with dominant-negative missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency. Recessive metaphyseal anadysplasia has been described as a milder form, caused by biallelic loss of function of either MMP9 or MMP13.
Fetal anomalies v0.587 COL6A2 Zornitza Stark Marked gene: COL6A2 as ready
Fetal anomalies v0.587 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.587 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090
Fetal anomalies v0.586 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.586 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
Fetal anomalies v0.586 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.586 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from COL6A1 associated myopathy to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090
Fetal anomalies v0.585 COL6A1 Zornitza Stark Mode of inheritance for gene: COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.584 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.584 MMP13 Daniel Flanagan reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 24781753, 24648384; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400), ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.584 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Fetal anomalies v0.584 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Fetal anomalies v0.584 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541; Osteopetrosis, autosomal recessive 4, MIM# 611490
Fetal anomalies v0.583 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Fetal anomalies v0.582 DVL1 Belinda Chong reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes
Fetal anomalies v0.582 KRIT1 Ain Roesley reviewed gene: KRIT1: Rating: RED; Mode of pathogenicity: None; Publications: 34556564, 20301470; Phenotypes: Cavernous malformations of CNS and retina MIM#116860, Cerebral cavernous malformations-1 MIM#116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KLF1 Ain Roesley reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300242, 25724378, 28265383; Phenotypes: Blood group--Lutheran inhibitor MIM#111150, Dyserythropoietic anemia, congenital, type IV MIM#613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KIF22 Ain Roesley reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25256152, 22152677, 22152678; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MMADHC Daniel Flanagan reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: None; Publications: 18385497; Phenotypes: Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 KIAA1109 Ain Roesley edited their review of gene: KIAA1109: Changed rating: GREEN
Fetal anomalies v0.582 KIAA1109 Ain Roesley reviewed gene: KIAA1109: Rating: ; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.582 KCTD1 Ain Roesley reviewed gene: KCTD1: Rating: RED; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MMACHC Daniel Flanagan reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631720, 16311595; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 KCNJ2 Ain Roesley reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301441; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MLC1 Daniel Flanagan reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 MID1 Daniel Flanagan reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1103076, 9354791; Phenotypes: Opitz GBBB syndrome, type I (MIM#300000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.582 KAT6B Ain Roesley reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22715153; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KAT6A Ain Roesley reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245513; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MESP2 Daniel Flanagan reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive (MIM#608681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 MEGF10 Daniel Flanagan changed review comment from: At least 4 families reported with early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Two animal models.

1 patient reported to have a cleft palate and 3 with high-arched palates.; to: At least 4 families reported with early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Two animal models.

1/7 patients had a cleft palate and 3/7 with a high-arched palates.
Fetal anomalies v0.582 MEGF10 Daniel Flanagan reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 22101682, 22371254, 30802937; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399), Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant (MIM#614399); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 MBTPS2 Daniel Flanagan reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894, 19361614, 21426410; Phenotypes: Osteogenesis imperfecta, type XIX, (MIM301014), IFAP syndrome with or without BRESHECK syndrome (MIM#308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800), ?Olmsted syndrome, X-linked (MIM#300918); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.582 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Amber List (moderate evidence)
Fetal anomalies v0.582 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.581 COL4A3BP Zornitza Stark reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.581 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Fetal anomalies v0.581 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.581 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from PORENCEPHALY 2 to Brain small vessel disease 2, MIM# 614483; Porencephaly
Fetal anomalies v0.580 COL4A2 Zornitza Stark Publications for gene: COL4A2 were set to 32732225
Fetal anomalies v0.579 COL4A2 Zornitza Stark Mode of inheritance for gene: COL4A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.578 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22209246; Phenotypes: Brain small vessel disease 2, MIM# 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.578 COL4A1 Zornitza Stark changed review comment from: Microphthalmia reported.; to: Microphthalmia, porencephaly reported.
Fetal anomalies v0.578 COL4A1 Zornitza Stark edited their review of gene: COL4A1: Changed phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780, Porencephaly
Fetal anomalies v0.578 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Fetal anomalies v0.578 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.578 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from PORENCEPHALY 1 to Brain small vessel disease with or without ocular anomalies, MIM#175780; Porenecphaly
Fetal anomalies v0.577 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878
Fetal anomalies v0.576 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.575 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Fetal anomalies v0.575 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.575 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from HP:0006496; HP:0002126; HP:0001883 to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050
Fetal anomalies v0.574 COL3A1 Zornitza Stark Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403
Fetal anomalies v0.573 COL3A1 Zornitza Stark changed review comment from: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.

Clubfoot is a feature of EDS vascular type.; to: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.

Talipes is a feature of EDS vascular type.
Fetal anomalies v0.573 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343, Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.573 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Fetal anomalies v0.573 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.573 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA to Collagenopathy type 2 alpha 1, MONDO:0022800
Fetal anomalies v0.572 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Collagenopathy type 2 alpha 1, MONDO:0022800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.572 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Fetal anomalies v0.572 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.572 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta; Ehlers-Danlos syndrome to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Fetal anomalies v0.571 COL1A2 Zornitza Stark edited their review of gene: COL1A2: Added comment: Well established gene-disease associations, likely representing a spectrum. The more severe phenotypes can present antenatally particularly with skeletal features.; Changed rating: GREEN; Changed phenotypes: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120, Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220
Fetal anomalies v0.571 COL1A2 Zornitza Stark Deleted their comment
Fetal anomalies v0.571 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Fetal anomalies v0.571 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.571 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED to Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220
Fetal anomalies v0.570 COL1A1 Zornitza Stark Publications for gene: COL1A1 were set to
Fetal anomalies v0.569 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Fetal anomalies v0.569 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.569 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I to Knobloch syndrome, type 1 MIM# 267750
Fetal anomalies v0.568 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Fetal anomalies v0.567 COL18A1 Zornitza Stark edited their review of gene: COL18A1: Changed rating: GREEN
Fetal anomalies v0.567 COL18A1 Zornitza Stark Deleted their comment
Fetal anomalies v0.567 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Fetal anomalies v0.567 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.567 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 to Fibrochondrogenesis 2, MIM# 614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Fetal anomalies v0.566 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 2, MIM# 614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.566 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Fetal anomalies v0.566 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.566 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780
Fetal anomalies v0.565 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 1, MIM# 228520, Marshall syndrome, MIM# 154780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.565 COL10A1 Zornitza Stark Marked gene: COL10A1 as ready
Fetal anomalies v0.565 COL10A1 Zornitza Stark Gene: col10a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.565 COL10A1 Zornitza Stark Phenotypes for gene: COL10A1 were changed from SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA to Metaphyseal chondrodysplasia, Schmid type, MIM#156500
Fetal anomalies v0.564 COL10A1 Zornitza Stark Publications for gene: COL10A1 were set to
Fetal anomalies v0.563 COL10A1 Zornitza Stark Mode of inheritance for gene: COL10A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.562 COL10A1 Zornitza Stark reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15880705, 31633898; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, MIM#156500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.562 COG8 Zornitza Stark Marked gene: COG8 as ready
Fetal anomalies v0.562 COG8 Zornitza Stark Gene: cog8 has been classified as Green List (High Evidence).
Fetal anomalies v0.562 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from COG8-CDG to Congenital disorder of glycosylation, type IIh, MIM# 611182
Fetal anomalies v0.561 COG8 Zornitza Stark Publications for gene: COG8 were set to 30690882
Fetal anomalies v0.560 COG7 Zornitza Stark Marked gene: COG7 as ready
Fetal anomalies v0.560 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Fetal anomalies v0.560 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from COG7-CDG to Congenital disorder of glycosylation, type IIe , MIM#608779
Fetal anomalies v0.559 COG7 Zornitza Stark Publications for gene: COG7 were set to
Fetal anomalies v0.558 COG7 Zornitza Stark changed review comment from: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.

Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.; to: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.

Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.

IUGR is a feature.
Fetal anomalies v0.558 COG4 Zornitza Stark Marked gene: COG4 as ready
Fetal anomalies v0.558 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Fetal anomalies v0.558 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from COG4-CDG; Saul-Wilson syndrome, 618150 to Congenital disorder of glycosylation, type IIj 613489; Saul-Wilson syndrome, MIM #618150
Fetal anomalies v0.557 COG4 Zornitza Stark Publications for gene: COG4 were set to 30290151
Fetal anomalies v0.556 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.555 COG4 Zornitza Stark edited their review of gene: COG4: Changed phenotypes: Congenital disorder of glycosylation, type IIj 613489, Saul-Wilson syndrome, OMIM #618150; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.555 COG4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.

Saul-Wilson syndrome is associated with mono-allelic variants: skeletal dysplasia, including prenatal findings.
Fetal anomalies v0.555 COG4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.
Fetal anomalies v0.555 COG1 Zornitza Stark Marked gene: COG1 as ready
Fetal anomalies v0.555 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Fetal anomalies v0.555 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from COG1-CDG to Congenital disorder of glycosylation, type IIg, MIM# 611209
Fetal anomalies v0.554 COG1 Zornitza Stark Publications for gene: COG1 were set to
Fetal anomalies v0.553 COG1 Zornitza Stark changed review comment from: Two unrelated families and supportive functional data.; to: Two unrelated families and supportive functional data. IUGR and congenital anomalies are a feature.
Fetal anomalies v0.553 COASY Zornitza Stark Marked gene: COASY as ready
Fetal anomalies v0.553 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.553 COASY Zornitza Stark Phenotypes for gene: COASY were changed from NEURODEGENERATION WITH BRAIN IRON ACCUMULATION to Pontocerebellar hypoplasia; microcephaly; arthrogryposis
Fetal anomalies v0.552 COASY Zornitza Stark Publications for gene: COASY were set to
Fetal anomalies v0.551 COASY Zornitza Stark changed review comment from: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA.
Sources: Expert list; to: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis.

Note gene is also associated with NBIA but this presents postnatally.
Sources: Expert list
Fetal anomalies v0.551 COASY Zornitza Stark Classified gene: COASY as Amber List (moderate evidence)
Fetal anomalies v0.551 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.550 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Fetal anomalies v0.550 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.550 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from ETHYLMALONIC ENCEPHALOPATHY to Ethylmalonic encephalopathy, MIM# 602473
Fetal anomalies v0.549 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.549 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Fetal anomalies v0.549 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Fetal anomalies v0.549 MEIS2 Zornitza Stark Publications for gene: MEIS2 were set to 30055086; 27225850; 25712757; 24678003; 30291340
Fetal anomalies v0.548 MEIS2 Zornitza Stark Mode of inheritance for gene: MEIS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.547 MEIS2 Zornitza Stark Classified gene: MEIS2 as Green List (high evidence)
Fetal anomalies v0.547 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Fetal anomalies v0.546 MEIS2 Zornitza Stark reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.546 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Fetal anomalies v0.546 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Fetal anomalies v0.546 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750
Fetal anomalies v0.545 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Fetal anomalies v0.544 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.543 DSTYK Zornitza Stark Classified gene: DSTYK as Red List (low evidence)
Fetal anomalies v0.543 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Fetal anomalies v0.542 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.542 DSP Zornitza Stark Marked gene: DSP as ready
Fetal anomalies v0.542 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Fetal anomalies v0.542 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908 to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Fetal anomalies v0.541 DSP Zornitza Stark Publications for gene: DSP were set to 30993396
Fetal anomalies v0.540 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.540 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; arthrogryposis; microcephaly; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Fetal anomalies v0.538 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 31608932; 30690204
Fetal anomalies v0.537 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.536 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Green List (high evidence)
Fetal anomalies v0.536 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.535 ATP1A2 Zornitza Stark commented on gene: ATP1A2: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Fetal anomalies v0.535 ATP1A2 Zornitza Stark Deleted their comment
Fetal anomalies v0.535 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.535 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 30690204, 31608932, 33880529
Fetal anomalies v0.535 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 30690204, 31608932; Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.535 DSTYK Belinda Chong reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540,23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.535 DSP Belinda Chong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16467215,23137101,26604139, 22795705,31983221,24108106,16175511,20302578,20613772; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.535 MED17 Zornitza Stark Marked gene: MED17 as ready
Fetal anomalies v0.535 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Fetal anomalies v0.535 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Fetal anomalies v0.534 MED17 Zornitza Stark Publications for gene: MED17 were set to
Fetal anomalies v0.533 MED17 Zornitza Stark Classified gene: MED17 as Green List (high evidence)
Fetal anomalies v0.533 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Fetal anomalies v0.532 MED17 Zornitza Stark changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures. Note the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.
Fetal anomalies v0.532 MED17 Zornitza Stark edited their review of gene: MED17: Changed publications: 30345598, 33756211
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark changed review comment from: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome.; to: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging.
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Fetal anomalies v0.531 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Fetal anomalies v0.530 CNTNAP2 Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707]; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark changed review comment from: Multiple affected individuals reported; ID is part of the phenotype.; to: Multiple affected individuals reported, multiple contractures.
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from LETHAL CONGENITAL CONTRACTURE SYNDROME 7 to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286
Fetal anomalies v0.529 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Fetal anomalies v0.528 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Fetal anomalies v0.528 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Fetal anomalies v0.528 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies , MIM#618672
Fetal anomalies v0.527 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Fetal anomalies v0.526 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.525 CNOT3 Zornitza Stark changed review comment from: Comment when marking as ready: 16 unrelated individuals reported.; to: 16 unrelated individuals reported.

Skeletal and structural brain abnormalities in some.
Fetal anomalies v0.525 CNOT3 Zornitza Stark edited their review of gene: CNOT3: Changed rating: GREEN
Fetal anomalies v0.525 CNOT1 Zornitza Stark Marked gene: CNOT1 as ready
Fetal anomalies v0.525 CNOT1 Zornitza Stark Gene: cnot1 has been classified as Green List (High Evidence).
Fetal anomalies v0.525 CNOT1 Zornitza Stark Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12, with or without pancreatic agenesis, 618500 to Holoprosencephaly 12, with or without pancreatic agenesis, 618500; Vissers-Bodmer syndrome, MIM#619033
Fetal anomalies v0.524 CNOT1 Zornitza Stark Publications for gene: CNOT1 were set to 31006513; 31006510
Fetal anomalies v0.523 CNOT1 Zornitza Stark Mode of inheritance for gene: CNOT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.522 CLPB Zornitza Stark Marked gene: CLPB as ready
Fetal anomalies v0.522 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Fetal anomalies v0.522 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Fetal anomalies v0.521 CLPB Zornitza Stark Publications for gene: CLPB were set to
Fetal anomalies v0.520 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.519 CLPB Zornitza Stark changed review comment from: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. More than 10 unrelated families reported.

Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.; to: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. Microcephaly is a feature. More than 10 unrelated families reported.

Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.
Fetal anomalies v0.519 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.519 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Fetal anomalies v0.519 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Fetal anomalies v0.519 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Fetal anomalies v0.519 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Fetal anomalies v0.519 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Fetal anomalies v0.518 DNMT3B Zornitza Stark Publications for gene: DNMT3B were set to
Fetal anomalies v0.517 DNMT3B Zornitza Stark reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.517 DNMT3B Belinda Chong reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11837609, 17893117,10647011,23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.517 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Filippi syndrome, MIM# 272440
Fetal anomalies v0.516 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Fetal anomalies v0.515 CKAP2L Zornitza Stark reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.515 CHUK Zornitza Stark Marked gene: CHUK as ready
Fetal anomalies v0.515 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.515 CHUK Zornitza Stark Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome
Fetal anomalies v0.514 CHUK Zornitza Stark Publications for gene: CHUK were set to
Fetal anomalies v0.513 CHUK Zornitza Stark Mode of inheritance for gene: CHUK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.512 CHUK Zornitza Stark Classified gene: CHUK as Amber List (moderate evidence)
Fetal anomalies v0.512 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.511 CHUK Zornitza Stark reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.511 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Fetal anomalies v0.511 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Fetal anomalies v0.511 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME to Temtamy preaxial brachydactyly syndrome, MIM# 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Fetal anomalies v0.510 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Fetal anomalies v0.509 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Fetal anomalies v0.509 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Fetal anomalies v0.509 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Fetal anomalies v0.508 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Fetal anomalies v0.507 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Fetal anomalies v0.507 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Fetal anomalies v0.507 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Fetal anomalies v0.506 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Fetal anomalies v0.505 CHST14 Zornitza Stark edited their review of gene: CHST14: Changed rating: GREEN
Fetal anomalies v0.505 CHST14 Zornitza Stark Deleted their comment
Fetal anomalies v0.505 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Fetal anomalies v0.505 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Fetal anomalies v0.505 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Fetal anomalies v0.504 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Fetal anomalies v0.503 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Fetal anomalies v0.502 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Fetal anomalies v0.501 CHRND Zornitza Stark Marked gene: CHRND as ready
Fetal anomalies v0.501 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Fetal anomalies v0.501 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Several associated, probably most relevant is lethal multiple pterygium syndrome 253290 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Fetal anomalies v0.500 CHRND Zornitza Stark Publications for gene: CHRND were set to
Fetal anomalies v0.499 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Fetal anomalies v0.499 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Fetal anomalies v0.499 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type, 253290; MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Fetal anomalies v0.498 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Fetal anomalies v0.498 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.498 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from OSTEOGENESIS IMPERFECTA, TYPE VIII to Osteogenesis imperfecta, type VIII 610915
Fetal anomalies v0.497 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Fetal anomalies v0.496 ITGB4 Ain Roesley edited their review of gene: ITGB4: Changed publications: 20301336
Fetal anomalies v0.496 ITGA6 Ain Roesley edited their review of gene: ITGA6: Changed publications: 31502654, 27607025, 9158140, 34525201, 20301336
Fetal anomalies v0.496 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Fetal anomalies v0.496 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.496 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis Bullosa with Pyloric Atresia. 226730 to Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730
Fetal anomalies v0.495 MATN3 Daniel Flanagan edited their review of gene: MATN3: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.495 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Fetal anomalies v0.495 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Fetal anomalies v0.495 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from Epidermolysis Bullosa with Pyloric Atresia. 226730 to Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730
Fetal anomalies v0.494 ITGA6 Zornitza Stark Publications for gene: ITGA6 were set to
Fetal anomalies v0.493 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Fetal anomalies v0.493 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Fetal anomalies v0.493 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from VAN DER WOUDE SYNDROME; POPLITEAL PTERYGIUM SYNDROME to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Fetal anomalies v0.492 IRF6 Zornitza Stark Mode of inheritance for gene: IRF6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.491 INTU Zornitza Stark Marked gene: INTU as ready
Fetal anomalies v0.491 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Fetal anomalies v0.491 INTU Zornitza Stark Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 to Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925
Fetal anomalies v0.490 INPPL1 Seb Lunke Marked gene: INPPL1 as ready
Fetal anomalies v0.490 INPPL1 Seb Lunke Gene: inppl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.490 INPPL1 Seb Lunke Phenotypes for gene: INPPL1 were changed from OPSISMODYSPLASIA to Opsismodysplasia MIM#258480
Fetal anomalies v0.489 INTU Zornitza Stark Publications for gene: INTU were set to 28289185; 29451301; 30266093
Fetal anomalies v0.488 INPPL1 Seb Lunke Publications for gene: INPPL1 were set to
Fetal anomalies v0.487 IMPAD1 Zornitza Stark Marked gene: IMPAD1 as ready
Fetal anomalies v0.487 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Fetal anomalies v0.487 IMPAD1 Zornitza Stark Phenotypes for gene: IMPAD1 were changed from CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE to Chondrodysplasia with joint dislocations, GPAPP type MIM#614078
Fetal anomalies v0.487 MATN3 Seb Lunke Phenotypes for gene: MATN3 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078)
Fetal anomalies v0.486 MATN3 Seb Lunke Publications for gene: MATN3 were set to
Fetal anomalies v0.485 IMPAD1 Zornitza Stark Publications for gene: IMPAD1 were set to
Fetal anomalies v0.484 MATN3 Seb Lunke Mode of inheritance for gene: MATN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from MENTAL RETARDATION X-LINKED TYPE 21 to Intellectual developmental disorder, X-linked 21 MIM#300143
Fetal anomalies v0.482 P3H1 Dean Phelan reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27864101, 33737016, 17277775, 19088120; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.482 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Fetal anomalies v0.481 IL1RAPL1 Ain Roesley changed review comment from: ID the main feature, with mild dysmorphism described.

only CNVs have been reported; to: ID the main feature, with mild dysmorphism described.

both SNV and intragenic CNVs have been reported
Fetal anomalies v0.481 IL1RAPL1 Zornitza Stark Classified gene: IL1RAPL1 as Red List (low evidence)
Fetal anomalies v0.481 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.480 MAP3K1 Seb Lunke Marked gene: MAP3K1 as ready
Fetal anomalies v0.480 MAP3K1 Seb Lunke Gene: map3k1 has been classified as Green List (High Evidence).
Fetal anomalies v0.480 MAP3K1 Seb Lunke Phenotypes for gene: MAP3K1 were changed from 46XY SEX REVERSAL 6 to 46XY sex reversal 6 (MIM#613762)
Fetal anomalies v0.479 MAP3K1 Seb Lunke Publications for gene: MAP3K1 were set to
Fetal anomalies v0.478 MAP3K1 Seb Lunke Mode of inheritance for gene: MAP3K1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.477 MAP3K1 Seb Lunke Classified gene: MAP3K1 as Green List (high evidence)
Fetal anomalies v0.477 MAP3K1 Seb Lunke Added comment: Comment on list classification: Hypospadias in males potentially detectable on US
Fetal anomalies v0.477 MAP3K1 Seb Lunke Gene: map3k1 has been classified as Green List (High Evidence).
Fetal anomalies v0.476 IFITM5 Ain Roesley edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other
Fetal anomalies v0.476 IL11RA Seb Lunke Marked gene: IL11RA as ready
Fetal anomalies v0.476 IL11RA Seb Lunke Gene: il11ra has been classified as Green List (High Evidence).
Fetal anomalies v0.476 IL11RA Seb Lunke Phenotypes for gene: IL11RA were changed from Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188 to Craniosynostosis and dental anomalies, MIM# 614188
Fetal anomalies v0.475 IHH Zornitza Stark Marked gene: IHH as ready
Fetal anomalies v0.475 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Fetal anomalies v0.475 IHH Zornitza Stark Phenotypes for gene: IHH were changed from ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1 to Acrocapitofemoral dysplasia MIM#607778; Brachydactyly, type A1 MIM#112500
Fetal anomalies v0.475 IL11RA Seb Lunke Publications for gene: IL11RA were set to
Fetal anomalies v0.474 IHH Zornitza Stark Publications for gene: IHH were set to
Fetal anomalies v0.473 IHH Zornitza Stark Mode of inheritance for gene: IHH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.472 MAFB Zornitza Stark Marked gene: MAFB as ready
Fetal anomalies v0.472 MAFB Zornitza Stark Gene: mafb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.472 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to Multicentric carpotarsal osteolysis syndrome (MIM#166300)
Fetal anomalies v0.471 MAFB Zornitza Stark Publications for gene: MAFB were set to
Fetal anomalies v0.470 MAFB Zornitza Stark Classified gene: MAFB as Amber List (moderate evidence)
Fetal anomalies v0.470 MAFB Zornitza Stark Gene: mafb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI MIM#604320 to Neuronopathy, distal hereditary motor, type VI MIM#604320; SMA with respiratory distress, SMARD1
Fetal anomalies v0.468 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to Neuronopathy, distal hereditary motor, type VI MIM#604320
Fetal anomalies v0.467 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Fetal anomalies v0.466 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Fetal anomalies v0.466 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Fetal anomalies v0.466 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7 to Aicardi-Goutieres syndrome 7 MIM#615846; Singleton-Merten syndrome 1, MIM# 182250
Fetal anomalies v0.465 IFIH1 Zornitza Stark Publications for gene: IFIH1 were set to 25542954
Fetal anomalies v0.464 IFIH1 Zornitza Stark Mode of pathogenicity for gene: IFIH1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.463 IFIH1 Zornitza Stark Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.462 IFIH1 Zornitza Stark reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.462 IDUA Seb Lunke Marked gene: IDUA as ready
Fetal anomalies v0.462 IDUA Seb Lunke Gene: idua has been classified as Green List (High Evidence).
Fetal anomalies v0.462 IDUA Seb Lunke Phenotypes for gene: IDUA were changed from MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070); Mucopolysaccharidosis type 1, MONDO:0001586
Fetal anomalies v0.461 IDUA Seb Lunke Publications for gene: IDUA were set to
Fetal anomalies v0.460 IDS Zornitza Stark Marked gene: IDS as ready
Fetal anomalies v0.460 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Fetal anomalies v0.460 IDS Zornitza Stark Phenotypes for gene: IDS were changed from MUCOPOLYSACCHARIDOSIS TYPE 2 to Mucopolysaccharidosis II MIM#309900; MONDO:0010674; Hunter syndrome
Fetal anomalies v0.459 IDS Zornitza Stark Publications for gene: IDS were set to
Fetal anomalies v0.458 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.458 MAF Seb Lunke Marked gene: MAF as ready
Fetal anomalies v0.458 MAF Seb Lunke Gene: maf has been classified as Green List (High Evidence).
Fetal anomalies v0.458 MAF Seb Lunke Phenotypes for gene: MAF were changed from CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to Ayme-Gripp syndrome (MIM#601088)
Fetal anomalies v0.457 MAF Seb Lunke Publications for gene: MAF were set to
Fetal anomalies v0.456 MAF Seb Lunke Mode of inheritance for gene: MAF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.455 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Fetal anomalies v0.455 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.455 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC 613177 to Cutis laxa, autosomal recessive, type IC, MIM# 613177
Fetal anomalies v0.454 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Fetal anomalies v0.453 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Fetal anomalies v0.453 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Fetal anomalies v0.453 LTBP3 Zornitza Stark Phenotypes for gene: LTBP3 were changed from PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA to Dental anomalies and short stature, MIM# 601216; Geleophysic dysplasia 3, MIM# 617809; Thoracic aneurysm
Fetal anomalies v0.452 LTBP3 Zornitza Stark Publications for gene: LTBP3 were set to
Fetal anomalies v0.451 LTBP3 Zornitza Stark Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.450 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Fetal anomalies v0.450 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.450 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from CENANI-LENZ SYNDACTYLY SYNDROME to Cenani-Lenz syndactyly syndrome (MIM#212780)
Fetal anomalies v0.449 LRP4 Zornitza Stark Publications for gene: LRP4 were set to
Fetal anomalies v0.448 ITGB4 Ain Roesley reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 ITGA6 Ain Roesley edited their review of gene: ITGA6: Changed rating: GREEN
Fetal anomalies v0.448 ITGA6 Ain Roesley changed review comment from: At least 4 probands reported

Pyelonephrosis, Urethrovesical occlusion and Stenosis at the ureterovesical junctions are some other features in this condition; to: At least 4 probands reported

Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder).
Fetal anomalies v0.448 ITGA6 Ain Roesley reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140, 34525201; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IRF6 Ain Roesley reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.448 INTU Ain Roesley reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: 27158779, 29451301, 20067783, 34623732; Phenotypes: Orofaciodigital syndrome XVII MIM#617926, Short-rib thoracic dysplasia 20 with polydactyly MIM#617925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 INPPL1 Ain Roesley reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23273567, 34529350, 34094554; Phenotypes: Opsismodysplasia MIM#258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IMPAD1 Ain Roesley reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 MATN3 Daniel Flanagan reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31724101, 32025536, 11968079, 14729835; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728), Epiphyseal dysplasia, multiple, 5 (MIM#607078); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.448 IL1RAPL1 Ain Roesley reviewed gene: IL1RAPL1: Rating: RED; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.448 MAP3K1 Daniel Flanagan reviewed gene: MAP3K1: Rating: RED; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IL11RA Ain Roesley reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21741611, 32277509, 30811827, 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM# 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IHH Ain Roesley reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 34530144, 12632327, 32311039, 29155992; Phenotypes: Acrocapitofemoral dysplasia MIM#607778, Brachydactyly, type A1 MIM#112500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 MAFB Daniel Flanagan reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IGHMBP2 Ain Roesley reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14681881, 23560007, 30863264; Phenotypes: Neuronopathy, distal hereditary motor, type VI MIM#604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.448 IFIH1 Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846, 28605144, 26284909, 28475458; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846, SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.448 CHKB Zornitza Stark Marked gene: CHKB as ready
Fetal anomalies v0.448 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Fetal anomalies v0.448 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type 602541 to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Fetal anomalies v0.447 CHKB Zornitza Stark Publications for gene: CHKB were set to
Fetal anomalies v0.446 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.446 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Fetal anomalies v0.446 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Fetal anomalies v0.446 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5 to CHARGE syndrome, MIM# 214800
Fetal anomalies v0.445 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Fetal anomalies v0.444 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.443 CHD7 Zornitza Stark changed review comment from: Very rare reports of CDH in CHARGE syndrome, not a characteristic or common feature.; to: Well established gene-disease association, multiple congenital anomalies are a feature.
Fetal anomalies v0.443 CHD7 Zornitza Stark edited their review of gene: CHD7: Changed rating: GREEN
Fetal anomalies v0.443 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Fetal anomalies v0.443 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.443 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Fetal anomalies v0.442 CHD4 Zornitza Stark changed review comment from: Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.; to: Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features.

Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.
Fetal anomalies v0.442 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.441 CHAT Zornitza Stark Marked gene: CHAT as ready
Fetal anomalies v0.441 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Fetal anomalies v0.441 CHAT Zornitza Stark Publications for gene: CHAT were set to
Fetal anomalies v0.440 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Marked gene: CHAMP1 as ready
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Gene: champ1 has been classified as Green List (High Evidence).
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Phenotypes for gene: CHAMP1 were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 40 (MIM#616579); microcephaly
Fetal anomalies v0.439 CHAMP1 Zornitza Stark Publications for gene: CHAMP1 were set to
Fetal anomalies v0.438 CHAMP1 Zornitza Stark Mode of inheritance for gene: CHAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.437 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.437 CFTR Zornitza Stark Marked gene: CFTR as ready
Fetal anomalies v0.437 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Fetal anomalies v0.437 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from Cystic fibrosis 219700 to Cystic fibrosis, MIM# 219700
Fetal anomalies v0.436 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.436 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Fetal anomalies v0.436 CFC1 Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.436 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to Heterotaxy, visceral, 2, autosomal 605376
Fetal anomalies v0.435 CFC1 Zornitza Stark Publications for gene: CFC1 were set to 11062482; 11799476
Fetal anomalies v0.434 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Fetal anomalies v0.434 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Fetal anomalies v0.434 CFAP53 Zornitza Stark Phenotypes for gene: CFAP53 were changed from inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation to Heterotaxy, visceral, 6, autosomal recessive 614779
Fetal anomalies v0.433 CFAP53 Zornitza Stark Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577
Fetal anomalies v0.432 IDUA Ain Roesley reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070), Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.432 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Fetal anomalies v0.432 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Fetal anomalies v0.432 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID
Fetal anomalies v0.431 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Fetal anomalies v0.430 CEP57 Zornitza Stark Marked gene: CEP57 as ready
Fetal anomalies v0.430 CEP57 Zornitza Stark Gene: cep57 has been classified as Green List (High Evidence).
Fetal anomalies v0.430 CEP57 Zornitza Stark Phenotypes for gene: CEP57 were changed from MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 to Mosaic variegated aneuploidy syndrome 2, #MIM 614114
Fetal anomalies v0.429 CEP57 Zornitza Stark Publications for gene: CEP57 were set to
Fetal anomalies v0.428 IDS Ain Roesley reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.428 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Fetal anomalies v0.428 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Fetal anomalies v0.428 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from JOUBERT SYNDROME 15 to Joubert syndrome 15, MIM# 614464
Fetal anomalies v0.427 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Fetal anomalies v0.426 MAF Daniel Flanagan reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.426 LTBP4 Daniel Flanagan reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM#613177); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.426 LTBP3 Daniel Flanagan reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344874, 25899461, 25669657, 29625025, 27068007, 34150014; Phenotypes: Dental anomalies and short stature, MIM# 601216, Geleophysic dysplasia 3, MIM# 617809, Thoracic aneurysm; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.426 LRP4 Daniel Flanagan reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23636941, 23664847, 30041615, 20381006; Phenotypes: Cenani-Lenz syndactyly syndrome (MIM#212780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.426 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134, Bardet-Biedl syndrome 14, MIM# 615991
Fetal anomalies v0.426 CEP290 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and BBS which all have congenital abnormalities as a feature.
Fetal anomalies v0.426 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Fetal anomalies v0.426 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Fetal anomalies v0.426 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4 to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134
Fetal anomalies v0.425 CEP290 Zornitza Stark Publications for gene: CEP290 were set to 16682973; 16682970; 17705300; 33370260; 32600475
Fetal anomalies v0.424 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Fetal anomalies v0.423 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Fetal anomalies v0.423 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Fetal anomalies v0.423 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from Nephronophthisis 15 614845 to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Fetal anomalies v0.422 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Fetal anomalies v0.421 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Fetal anomalies v0.421 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Fetal anomalies v0.421 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4 to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Fetal anomalies v0.420 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Fetal anomalies v0.419 CEP152 Zornitza Stark changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. ID is a feature of both disorders. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.
Fetal anomalies v0.419 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Fetal anomalies v0.419 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Fetal anomalies v0.419 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Fetal anomalies v0.418 CEP120 Zornitza Stark Publications for gene: CEP120 were set to PMID: 2720821; 25361962
Fetal anomalies v0.417 CEP120 Zornitza Stark Deleted their comment
Fetal anomalies v0.417 CEP120 Zornitza Stark edited their review of gene: CEP120: Added comment: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data.; Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Fetal anomalies v0.417 CEP104 Zornitza Stark changed review comment from: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated individuals reported, structural brain abnormalities are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.417 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Fetal anomalies v0.417 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Fetal anomalies v0.417 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Fetal anomalies v0.416 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Fetal anomalies v0.415 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Fetal anomalies v0.415 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Fetal anomalies v0.415 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6 to Microcephaly 6, primary, autosomal recessive, MIM# 608393; Seckel syndrome 4, MIM# 613676
Fetal anomalies v0.414 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Fetal anomalies v0.413 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, Seckel syndrome 4, MIM# 613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.413 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Fetal anomalies v0.413 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.413 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, MIM#613804
Fetal anomalies v0.412 CDT1 Zornitza Stark changed review comment from: IUGR.; to: IUGR is a presenting feature.
Fetal anomalies v0.412 CDT1 Zornitza Stark changed review comment from: Intellect is typically normal.; to: IUGR.
Fetal anomalies v0.412 CDT1 Zornitza Stark edited their review of gene: CDT1: Changed rating: GREEN
Fetal anomalies v0.412 CDON Zornitza Stark Marked gene: CDON as ready
Fetal anomalies v0.412 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Fetal anomalies v0.412 CDON Zornitza Stark Phenotypes for gene: CDON were changed from HOLOPROSENCEPHALY 11 to Holoprosencephaly 11, MIM# 614226; MONDO:0013642
Fetal anomalies v0.411 CDON Zornitza Stark Publications for gene: CDON were set to
Fetal anomalies v0.410 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.410 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Fetal anomalies v0.410 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Fetal anomalies v0.410 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from IMAGe Syndrome; BECKWITH-WIEDEMANN SYNDROME to Beckwith-Wiedemann syndrome, MIM# 130650; IMAGe syndrome, MIM# 614732; Silver-Russell syndrome
Fetal anomalies v0.409 CDKN1C Zornitza Stark Publications for gene: CDKN1C were set to
Fetal anomalies v0.408 CDKN1C Zornitza Stark Deleted their comment
Fetal anomalies v0.408 CDKN1C Zornitza Stark edited their review of gene: CDKN1C: Added comment: LoF variants in this gene cause overgrowth and BWS.

IMAGe syndrome: reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.

Can present antenatally with macrosomia/IUGR respectively.; Changed rating: GREEN; Changed publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Changed phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.408 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Fetal anomalies v0.408 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Fetal anomalies v0.408 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 to Developmental and epileptic encephalopathy 2, MIM# 300672
Fetal anomalies v0.407 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to 19793311
Fetal anomalies v0.407 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Fetal anomalies v0.406 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.406 CDK13 Zornitza Stark Mode of inheritance for gene: CDK13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.405 CDK13 Zornitza Stark Deleted their comment
Fetal anomalies v0.405 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Fetal anomalies v0.405 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Fetal anomalies v0.405 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Fetal anomalies v0.404 CDK13 Zornitza Stark Publications for gene: CDK13 were set to
Fetal anomalies v0.403 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Fetal anomalies v0.403 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Fetal anomalies v0.403 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
Fetal anomalies v0.402 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Fetal anomalies v0.401 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805154, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.401 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Fetal anomalies v0.401 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Fetal anomalies v0.401 CDH1 Zornitza Stark Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, MIM# 119580
Fetal anomalies v0.400 CDH1 Zornitza Stark Publications for gene: CDH1 were set to
Fetal anomalies v0.399 CDH1 Zornitza Stark Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.398 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.398 CDC6 Zornitza Stark Marked gene: CDC6 as ready
Fetal anomalies v0.398 CDC6 Zornitza Stark Gene: cdc6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.398 CDC6 Zornitza Stark Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5 (MIM#613805)
Fetal anomalies v0.397 CDC6 Zornitza Stark Publications for gene: CDC6 were set to
Fetal anomalies v0.396 CDC6 Zornitza Stark Classified gene: CDC6 as Red List (low evidence)
Fetal anomalies v0.396 CDC6 Zornitza Stark Gene: cdc6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.395 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Fetal anomalies v0.395 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Fetal anomalies v0.395 CDC45 Zornitza Stark Phenotypes for gene: CDC45 were changed from Meier-Gorlin Syndrome and Craniosynostosis to Meier-Gorlin syndrome 7, MIM 617063
Fetal anomalies v0.394 CDC45 Zornitza Stark Publications for gene: CDC45 were set to