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Prepair 1000+ v1.7 ACAD9 Karina Sandoval reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30025539, 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 UBE2T Seb Lunke Added phenotypes Fanconi anemia, complementation group T, 616435 (3) for gene: UBE2T
Prepair 1000+ v1.3 PET100 Seb Lunke Added phenotypes Mitochondrial complex IV deficiency, 220110 (3) for gene: PET100
Prepair 1000+ v1.3 NDUFV1 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFV1
Prepair 1000+ v1.3 NDUFS6 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFS6
Prepair 1000+ v1.3 NDUFAF5 Seb Lunke Added phenotypes Mitochondrial complex 1 deficiency, 252010 (3) for gene: NDUFAF5
Prepair 1000+ v1.3 MTR Seb Lunke Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) for gene: MTR
Prepair 1000+ v1.3 MPL Seb Lunke Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3) for gene: MPL
Prepair 1000+ v1.3 MMAB Seb Lunke Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) for gene: MMAB
Prepair 1000+ v1.3 KRT14 Seb Lunke Added phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3) for gene: KRT14
Prepair 1000+ v1.3 FOXRED1 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: FOXRED1
Prepair 1000+ v1.3 FANCL Seb Lunke Added phenotypes Fanconi anemia, complementation group L, 614083 (3) for gene: FANCL
Prepair 1000+ v1.3 FANCI Seb Lunke Added phenotypes Fanconi anemia, complementation group I, 609053 (3) for gene: FANCI
Prepair 1000+ v1.3 FANCG Seb Lunke Added phenotypes Fanconi anemia, complementation group G, 614082 (3) for gene: FANCG
Prepair 1000+ v1.3 FANCF Seb Lunke Added phenotypes Fanconi anemia, complementation group F, 603467 (3) for gene: FANCF
Prepair 1000+ v1.3 FANCE Seb Lunke Added phenotypes Fanconi anemia, complementation group E, 600901 (3) for gene: FANCE
Prepair 1000+ v1.3 FANCD2 Seb Lunke Added phenotypes Fanconi anemia, complementation group D2, 227646 (3) for gene: FANCD2
Prepair 1000+ v1.3 FANCC Seb Lunke Added phenotypes Fanconi anemia, complementation group C, 227645 (3) for gene: FANCC
Prepair 1000+ v1.3 FANCB Seb Lunke Added phenotypes Fanconi anemia, complementation group B, 300514 (3) for gene: FANCB
Prepair 1000+ v1.3 FANCA Seb Lunke Added phenotypes Fanconi anemia, complementation group A, 227650 (3) for gene: FANCA
Prepair 1000+ v1.3 ERCC4 Seb Lunke Added phenotypes Fanconi anemia, complementation group Q, 615272 (3) for gene: ERCC4
Prepair 1000+ v1.3 CYP11A1 Seb Lunke Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) for gene: CYP11A1
Prepair 1000+ v1.3 CIITA Seb Lunke Added phenotypes Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) for gene: CIITA
Prepair 1000+ v1.3 ACAD9 Seb Lunke Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) for gene: ACAD9
Prepair 1000+ v1.0 BRIP1 Himanshu Goel gene: BRIP1 was added
gene: BRIP1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 16116423
Phenotypes for gene: BRIP1 were set to Fanconi Anaemia
Penetrance for gene: BRIP1 were set to Complete
Mode of pathogenicity for gene: BRIP1 was set to Other
Review for gene: BRIP1 was set to GREEN
gene: BRIP1 was marked as current diagnostic
Added comment: Sources: Literature
Prepair 1000+ v0.119 PCDH19 Crystle Lee gene: PCDH19 was added
gene: PCDH19 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: PCDH19 was set to Other
Publications for gene: PCDH19 were set to 18469813; 30287595
Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)
Review for gene: PCDH19 was set to AMBER
Added comment: XLD. Affects heterozygous females, hemizygous males are mainly unaffected
> 3 unrelated families with phenotype, > 3 de novo mutation carriers with phenotype
Evidence of mosaicism and incomplete penetrance
Sources: Literature
Prepair 1000+ v0.85 WNT10A Crystle Lee gene: WNT10A was added
gene: WNT10A was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: WNT10A were set to 19559398; 30426266
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD
Penetrance for gene: WNT10A were set to Incomplete
Review for gene: WNT10A was set to RED
Added comment: Well established gene disease association.

Genotype-phenotype correlation is unclear. The same variant has been associated with all 3 phenotypes and both AR and AD inheritance. Variable expressivity, however milder phenotypes seem to be associated with AD (PMID: 19559398; 30426266)
Sources: Literature
Prepair 1000+ v0.85 TECPR2 Crystle Lee gene: TECPR2 was added
gene: TECPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466; 35130874
Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Review for gene: TECPR2 was set to GREEN
Added comment: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent
Sources: Literature
Prepair 1000+ v0.85 PYGM Crystle Lee gene: PYGM was added
gene: PYGM was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease (MIM#232600)
Review for gene: PYGM was set to AMBER
Added comment: Gene-disease association for bi-allelic variants is well established.

McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria

Clinical heterogeneity exists; about 10% of all affected individuals have mild manifestations (e.g., fatigue or poor stamina without contractures) and remain virtually asymptomatic during daily activities of living(Gene Reviews)
Sources: Literature
Prepair 1000+ v0.85 MEFV Crystle Lee gene: MEFV was added
gene: MEFV was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR (MIM#249100)
Penetrance for gene: MEFV were set to Incomplete
Review for gene: MEFV was set to AMBER
Added comment: Well established association. Predominantly bi-allelic, though a limited range of heterozygous variants have been associated with disease.
Sources: Literature
Prepair 1000+ v0.61 HFE Crystle Lee gene: HFE was added
gene: HFE was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Hemochromatosis (MIM#235200)
Penetrance for gene: HFE were set to Incomplete
Review for gene: HFE was set to RED
Added comment: Well established gene disease association. HFE hemochromatosis is an adult-onset, treatable disorder with low clinical penetrance (Gene Reviews).

Not suitable for population carrier screening.
Sources: Literature
Prepair 1000+ v0.61 GP9 Crystle Lee gene: GP9 was added
gene: GP9 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP9 were set to 8049428; 33553065; 32030720; 31484196
Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C (MIM#231200)
Review for gene: GP9 was set to AMBER
Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.

At least 3 unrelated families reported, animal model.
Sources: Literature
Prepair 1000+ v0.61 GJB1 Crystle Lee gene: GJB1 was added
gene: GJB1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Review for gene: GJB1 was set to AMBER
Added comment: CMTX has both demyelinating and axonal features. Well established gene-disease association, over 100 families reported. Variable phenotype with incomplete penetrance (OMIM)

PMID 31842800: Three unrelated males with GJB1 variants and recurrent episodes of reversible posterior leukoencephalopathy reported.
Sources: Literature
Prepair 1000+ v0.31 UQCRQ Crystle Lee reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.19 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Prepair 1000+ v0.0 NDUFA11 Crystle Lee reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Prepair 1000+ v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Prepair 1000+ v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)
Prepair 1000+ v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
Prepair 1000+ v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Prepair 1000+ v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)
Prepair 1000+ v0.0 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Prepair 1000+ v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)
Prepair 1000+ v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Prepair 1000+ v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 1000+ v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
Prepair 1000+ v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Prepair 1000+ v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Prepair 1000+ v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Prepair 1000+ v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Prepair 1000+ v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Prepair 1000+ v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Prepair 1000+ v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Prepair 1000+ v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
Prepair 1000+ v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 1000+ v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 1000+ v0.0 GPR179 Zornitza Stark gene: GPR179 was added
gene: GPR179 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
Prepair 1000+ v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)
Prepair 1000+ v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)
Prepair 1000+ v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)
Prepair 1000+ v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)
Prepair 1000+ v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)
Prepair 1000+ v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)
Prepair 1000+ v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)
Prepair 1000+ v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)
Prepair 1000+ v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)
Prepair 1000+ v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)
Prepair 1000+ v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Prepair 1000+ v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 1000+ v0.0 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Prepair 1000+ v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)
Prepair 1000+ v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3)
Prepair 1000+ v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3)
Prepair 1000+ v0.0 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
Prepair 1000+ v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 1000+ v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)