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Hydrops fetalis v0.313 RAPSN Zornitza Stark Publications for gene: RAPSN were set to 18252226
Hydrops fetalis v0.312 RAPSN Zornitza Stark Classified gene: RAPSN as Green List (high evidence)
Hydrops fetalis v0.312 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Hydrops fetalis v0.311 RAPSN Lilian Downie reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34302381, PMID: 33897756, PMID: 28495245; Phenotypes: Fetal akinesia deformation sequence 2 MIM#618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.311 EHBP1L1 Ain Roesley Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related to non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related
Hydrops fetalis v0.310 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related to Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related
Hydrops fetalis v0.309 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Green List (high evidence)
Hydrops fetalis v0.309 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.308 EHBP1L1 Zornitza Stark reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.308 CELSR1 Chern Lim edited their review of gene: CELSR1: Changed rating: GREEN
Hydrops fetalis v0.308 CELSR1 Ain Roesley Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, MIM# 619319 to Lymphatic malformation 9, MIM# 619319
Hydrops fetalis v0.307 CELSR1 Ain Roesley changed review comment from: Comment on phenotypes: Presentation of hydrod is a phenotypic expansion on Lymphatic malformation; to: Comment on phenotypes: Presentation of hydrops is a phenotypic expansion on Lymphatic malformation
Hydrops fetalis v0.307 CELSR1 Ain Roesley Marked gene: CELSR1 as ready
Hydrops fetalis v0.307 CELSR1 Ain Roesley Gene: celsr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.307 CELSR1 Ain Roesley Added comment: Comment on phenotypes: Presentation of hydrod is a phenotypic expansion on Lymphatic malformation
Hydrops fetalis v0.307 CELSR1 Ain Roesley Phenotypes for gene: CELSR1 were changed from hydrops fetalis (MONDO:0015193), CELSR1-related to Lymphatic malformation 9, MIM# 619319
Hydrops fetalis v0.306 CELSR1 Ain Roesley Classified gene: CELSR1 as Green List (high evidence)
Hydrops fetalis v0.306 CELSR1 Ain Roesley Gene: celsr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.305 CELSR1 Chern Lim gene: CELSR1 was added
gene: CELSR1 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELSR1 were set to 38272662
Phenotypes for gene: CELSR1 were set to hydrops fetalis (MONDO:0015193), CELSR1-related
Review for gene: CELSR1 was set to AMBER
gene: CELSR1 was marked as current diagnostic
Added comment: PMID: 38272662:
- Het de novo missense variants in two unrelated cases of fetal pleural effusions leading to severe fetal hydrops - Cys1318Tyr, Cys1349Arg.
- Both variants lie within the same protein domain.
- Functional studies performed for only one of the variants, p.(Cys1318Tyr): the variant affected CELSR1 protein cell membrane localisation compared with wild-type CELSR1 protein in both a plasmid-based overexpression system and the patient fibroblast cells. Bulk RNA-seq of RNA samples extracted from the proband and the mother’s fibroblast cells demonstrated that in the proband mRNA samples, the amount of CELSR1 mRNA was significantly decreased.
- No functional testing was performed on the p.(Cys1349Arg) variant.
Sources: Literature
Hydrops fetalis v0.305 PKP2 Suliman Khan reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, MONDO:0004994, PKP2-related; Mode of inheritance: None
Hydrops fetalis v0.305 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Hydrops fetalis v0.305 PKP2 Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.305 PKP2 Zornitza Stark Classified gene: PKP2 as Green List (high evidence)
Hydrops fetalis v0.305 PKP2 Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.304 PKP2 Zornitza Stark gene: PKP2 was added
gene: PKP2 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP2 were set to 30562116; 35059364; 38050058
Phenotypes for gene: PKP2 were set to Dilated cardiomyopathy, MONDO:0005021, PKP2-related
Review for gene: PKP2 was set to GREEN
Added comment: Reports of severe perinatal onset DCM and of HLH, some presenting with hydrops.
Sources: Literature
Hydrops fetalis v0.303 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis to Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related
Hydrops fetalis v0.302 NPR1 Zornitza Stark Marked gene: NPR1 as ready
Hydrops fetalis v0.302 NPR1 Zornitza Stark Gene: npr1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.302 NPR1 Zornitza Stark Classified gene: NPR1 as Red List (low evidence)
Hydrops fetalis v0.302 NPR1 Zornitza Stark Gene: npr1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.302 BICD2 Ain Roesley Classified gene: BICD2 as Amber List (moderate evidence)
Hydrops fetalis v0.302 BICD2 Ain Roesley Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.301 BICD2 Ee Ming Wong changed review comment from: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process
- Confirmed to be de novo for a missense variant in BICD2
- Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops.
Sources: Literature; to: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process
- Confirmed to be de novo for a missense variant in BICD2
- Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual was not determined to have hydrops.
Sources: Literature
Hydrops fetalis v0.301 BICD2 Ain Roesley Classified gene: BICD2 as Amber List (moderate evidence)
Hydrops fetalis v0.301 BICD2 Ain Roesley Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.300 BICD2 Ain Roesley Marked gene: BICD2 as ready
Hydrops fetalis v0.300 BICD2 Ain Roesley Gene: bicd2 has been removed from the panel.
Hydrops fetalis v0.300 NPR1 Lilian Downie changed review comment from: single family (4 affected infants) with neonatal hypertension/cardiogenic shock
3/4 sibs had NT >3.5
Sources: Literature; to: single family (4 affected infants) with neonatal hypertension/cardiogenic shock
3/4 sibs had NT >3.5
a slight reduction in the expected number of homozygous
Npr1 knockout mutant mice was statistically significant and
is related to fetal hydrops observed in approximately 10% of
homozygous embryos

Sources: Literature
Hydrops fetalis v0.300 BICD2 Ee Ming Wong gene: BICD2 was added
gene: BICD2 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 37173812
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant 2B, prenatal-onset (MIM#609797)
Review for gene: BICD2 was set to AMBER
gene: BICD2 was marked as current diagnostic
Added comment: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process
- Confirmed to be de novo for a missense variant in BICD2
- Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops.
Sources: Literature
Hydrops fetalis v0.300 NPR1 Lilian Downie gene: NPR1 was added
gene: NPR1 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR1 were set to PMID: 37080586
Phenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512
Review for gene: NPR1 was set to RED
Added comment: single family (4 affected infants) with neonatal hypertension/cardiogenic shock
3/4 sibs had NT >3.5
Sources: Literature
Hydrops fetalis v0.300 RASA1 Zornitza Stark Publications for gene: RASA1 were set to 26096958
Hydrops fetalis v0.299 RASA1 Zornitza Stark Classified gene: RASA1 as Green List (high evidence)
Hydrops fetalis v0.299 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.298 RASA1 Lilian Downie reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36980822; Phenotypes: ?; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.298 GLA Zornitza Stark Marked gene: GLA as ready
Hydrops fetalis v0.298 GLA Zornitza Stark Gene: gla has been classified as Red List (Low Evidence).
Hydrops fetalis v0.298 GLA Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500
Hydrops fetalis v0.297 GLA Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.296 GLA Zornitza Stark Classified gene: GLA as Red List (low evidence)
Hydrops fetalis v0.296 GLA Zornitza Stark Gene: gla has been classified as Red List (Low Evidence).
Hydrops fetalis v0.295 GLA Zornitza Stark reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.295 THSD1 Zornitza Stark Phenotypes for gene: THSD1 were changed from Hydrops fetalis MONDO:0015193, THSD1-related to Lymphatic malformation 13, MIM# 620244
Hydrops fetalis v0.294 THSD1 Zornitza Stark reviewed gene: THSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 13, MIM# 620244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.294 Zornitza Stark HPO terms changed from to Hydrops fetalis, HP:0001789
List of related panels changed from to Hydrops fetalis; HP:0001789
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Classified gene: RRAS2 as Green List (high evidence)
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.292 RRAS2 Zornitza Stark gene: RRAS2 was added
gene: RRAS2 was added to Hydrops fetalis. Sources: Expert Review
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to 33686258; 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624
Review for gene: RRAS2 was set to GREEN
Added comment: Established Rasopathy gene; identified in hydrops cohort PMID 33686258.
Sources: Expert Review
Hydrops fetalis v0.291 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Hydrops fetalis v0.291 MDFIC Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014
Hydrops fetalis v0.290 MDFIC Zornitza Stark edited their review of gene: MDFIC: Changed phenotypes: Lymphatic malformation 12, MIM# 620014; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.290 SPTA1 Zornitza Stark Marked gene: SPTA1 as ready
Hydrops fetalis v0.290 SPTA1 Zornitza Stark Gene: spta1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.290 SPTA1 Zornitza Stark Publications for gene: SPTA1 were set to 34132406; 35483216; 31333484; 29594000
Hydrops fetalis v0.289 SPTA1 Zornitza Stark Publications for gene: SPTA1 were set to 34132406
Hydrops fetalis v0.289 SPTA1 Zornitza Stark Mode of inheritance for gene: SPTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.288 SPTA1 Zornitza Stark Classified gene: SPTA1 as Green List (high evidence)
Hydrops fetalis v0.288 SPTA1 Zornitza Stark Gene: spta1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.287 SPTA1 Zornitza Stark reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35483216, 31333484, 29594000; Phenotypes: Spherocytosis type 3 #270970, Elliptocytosis-2 #130600, Pyropoikilocytosis #266140; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.287 GLDN Zornitza Stark Marked gene: GLDN as ready
Hydrops fetalis v0.287 GLDN Zornitza Stark Gene: gldn has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.287 GLDN Zornitza Stark Classified gene: GLDN as Amber List (moderate evidence)
Hydrops fetalis v0.287 GLDN Zornitza Stark Gene: gldn has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.286 GLDN Zornitza Stark reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: None; Publications: 35806855; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.286 DOK7 Zornitza Stark Publications for gene: DOK7 were set to 31880392; 19261599
Hydrops fetalis v0.285 DOK7 Zornitza Stark Classified gene: DOK7 as Green List (high evidence)
Hydrops fetalis v0.285 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.284 DOK7 Zornitza Stark edited their review of gene: DOK7: Added comment: Upgrade to Green with additional families published (founder variant).; Changed rating: GREEN; Changed publications: 31880392, 19261599, 34132406
Hydrops fetalis v0.284 SPTA1 Di Milnes Deleted their comment
Hydrops fetalis v0.284 SPTA1 Di Milnes edited their review of gene: SPTA1: Added comment: single case fetus consanguineous parents
severe anaemia with NIHF
homozygous variant NM_003126.4:c.83G>A; Changed phenotypes: Spherocytosis type 3 #270970, Elliptocytosis-2 #130600, Pyropoikilocytosis #266140
Hydrops fetalis v0.284 SPTA1 Di Milnes reviewed gene: SPTA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34132406; Phenotypes: Spherocytosis type 3 #270970, Elliptocytosis-2 #130600, pyropoikilocytosis #266140; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.284 SPTA1 Di Milnes Deleted their review
Hydrops fetalis v0.284 DOK7 Di Milnes reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 34132406; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.284 DOK7 Di Milnes Deleted their review
Hydrops fetalis v0.284 SPTA1 Di Milnes gene: SPTA1 was added
gene: SPTA1 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTA1 were set to 34132406
Phenotypes for gene: SPTA1 were set to Spherocytosis type 3 #270970; Elliptocytosis-2 #130600; pyropoikilocytosis #266140
Review for gene: SPTA1 was set to AMBER
Added comment: single case fetus consanguineous parents
severe anaemia with NIHF
homozygous variant NM_003126.4:c.83G>A
Sources: Literature
Hydrops fetalis v0.284 DOK7 Di Milnes changed review comment from: Homozygous pathogenic variant NM_173660.5:c.439delG
recurrent NIHF in four consanguineous families
NIHF as part of the presentation of FADS; to: Homozygous pathogenic variant NM_173660.5:c.439delG
recurrent NIHF in four consanguineous families
NIHF as part of the presentation of FADS
PMID didn't save the last digit - 34132406
Hydrops fetalis v0.284 GLDN Di Milnes gene: GLDN was added
gene: GLDN was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDN were set to 34132406
Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM# 617194
Review for gene: GLDN was set to AMBER
Added comment: Homozygous pathogenic variant in two of three recurrent NIHF in consanguineous couple (no DNA from the 3rd fetus available - two prior pregnancies and current pregnancy NIHF), segregated in parents
NM_181789.4:c.385_392delTGCAACAG
Sources: Literature
Hydrops fetalis v0.284 DOK7 Di Milnes reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 3413240; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.284 UROS Zornitza Stark Publications for gene: UROS were set to 24027798
Hydrops fetalis v0.283 UROS Zornitza Stark Classified gene: UROS as Green List (high evidence)
Hydrops fetalis v0.283 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Hydrops fetalis v0.282 UROS Chern Lim reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30685241, 34828434, 15065102, 11254675; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrops fetalis v0.282 THSD1 Zornitza Stark Classified gene: THSD1 as Green List (high evidence)
Hydrops fetalis v0.282 THSD1 Zornitza Stark Gene: thsd1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.281 THSD1 Zornitza Stark Marked gene: THSD1 as ready
Hydrops fetalis v0.281 THSD1 Zornitza Stark Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.281 THSD1 Zornitza Stark Phenotypes for gene: THSD1 were changed from nonimmune hydrops fetalis to Hydrops fetalis MONDO:0015193, THSD1-related
Hydrops fetalis v0.280 THSD1 Elena Savva Classified gene: THSD1 as Amber List (moderate evidence)
Hydrops fetalis v0.280 THSD1 Elena Savva Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.279 THSD1 Elena Savva gene: THSD1 was added
gene: THSD1 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THSD1 were set to PMID: 33569873; 27895300
Phenotypes for gene: THSD1 were set to nonimmune hydrops fetalis
Review for gene: THSD1 was set to GREEN
Added comment: PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. Mother described as having Crohns disease but nothing else unusual, no comments on the father. Fx of 1/3 triplets with severe hydrops fetalis, not sequenced.
- Paper reviews previous NIHF cases and reports another homozygous PTC in two families (4, 2 affected) and a recurring homozygous missense (p.Cys206Tyr) in three families (6, 4, 3 affected).
- No mention of clinically affected heterozygotes.

PMID: 27895300- Mouse model has hydrocephaly with poor perfusion.
Sources: Literature
Hydrops fetalis v0.278 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Hydrops fetalis v0.278 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.278 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Hydrops fetalis v0.277 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Hydrops fetalis v0.276 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.275 GLE1 Chirag Patel reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.275 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Hydrops fetalis v0.275 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Hydrops fetalis v0.275 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to Noonan syndrome #163950
Hydrops fetalis v0.274 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Hydrops fetalis v0.273 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.272 PMM2 Zornitza Stark edited their review of gene: PMM2: Changed rating: GREEN
Hydrops fetalis v0.272 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Hydrops fetalis v0.272 PMM2 Zornitza Stark Added comment: Comment when marking as ready: Multiple reports of hydrops, reviewed in PMID 31420886
Hydrops fetalis v0.272 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.272 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia, MIM# 212065
Hydrops fetalis v0.271 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Hydrops fetalis v0.270 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.269 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Hydrops fetalis v0.269 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.269 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from to Lymphatic malformation 6, MIM# 616843
Hydrops fetalis v0.268 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to
Hydrops fetalis v0.267 PIEZO1 Zornitza Stark Mode of inheritance for gene: PIEZO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.266 PTPN11 Abhijit Kulkarni reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33686258, 33847422; Phenotypes: Noonan syndrome #163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.266 PMM2 Abhijit Kulkarni reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20638314, 21541725, 28954837; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.266 PIEZO1 Abhijit Kulkarni reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23581886, 34421994, 26333996; Phenotypes: lymphatic dysplasia (GLD) (OMIM #616843),; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.266 CDK10 Ain Roesley Marked gene: CDK10 as ready
Hydrops fetalis v0.266 CDK10 Ain Roesley Gene: cdk10 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.266 CDK10 Ain Roesley Classified gene: CDK10 as Amber List (moderate evidence)
Hydrops fetalis v0.266 CDK10 Ain Roesley Gene: cdk10 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.265 CDK10 Ain Roesley gene: CDK10 was added
gene: CDK10 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 28886341; 34974531
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome MIM#617694
Review for gene: CDK10 was set to AMBER
gene: CDK10 was marked as current diagnostic
Added comment: 1 out of 6 families reported hydrops
Sources: Literature
Hydrops fetalis v0.264 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Hydrops fetalis v0.264 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.264 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 611553
Hydrops fetalis v0.263 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Hydrops fetalis v0.262 RAF1 Zornitza Stark Mode of pathogenicity for gene: RAF1 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
Hydrops fetalis v0.261 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.260 RIT1 Zornitza Stark edited their review of gene: RIT1: Changed phenotypes: Noonan syndrome-8, MIM:#615355; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.260 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Hydrops fetalis v0.260 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.260 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from to Noonan syndrome-8, MIM:#615355
Hydrops fetalis v0.259 RIT1 Zornitza Stark Publications for gene: RIT1 were set to
Hydrops fetalis v0.258 RIT1 Zornitza Stark Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.257 RIT1 Zornitza Stark reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.257 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Hydrops fetalis v0.257 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.257 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM: #607721
Hydrops fetalis v0.256 SHOC2 Zornitza Stark Publications for gene: SHOC2 were set to
Hydrops fetalis v0.255 SHOC2 Zornitza Stark Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.254 SHOC2 Zornitza Stark reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.254 RAF1 Abhijit Kulkarni reviewed gene: RAF1: 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: 17603483, 17603482, 31145547, 31030682, 29271604, 24777450; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.254 RIT1 Abhijit Kulkarni reviewed gene: RIT1: Rating: ; Mode of pathogenicity: None; Publications: 25124994, 24939608, 27101134, 23791108, 33082562; Phenotypes: Noonan syndrome-8, MIM:#615355; Mode of inheritance: None
Hydrops fetalis v0.254 SHOC2 Abhijit Kulkarni reviewed gene: SHOC2: Rating: ; Mode of pathogenicity: None; Publications: 24458587, 33082562, 33027564; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM: #607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.254 GBA Zornitza Stark Marked gene: GBA as ready
Hydrops fetalis v0.254 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Hydrops fetalis v0.254 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal,MIM# 608013
Hydrops fetalis v0.253 GBA Zornitza Stark Publications for gene: GBA were set to
Hydrops fetalis v0.252 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.251 GALNS Zornitza Stark Marked gene: GALNS as ready
Hydrops fetalis v0.251 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Hydrops fetalis v0.251 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from to Mucopolysaccharidosis IVA, MIM# 253000
Hydrops fetalis v0.250 GALNS Zornitza Stark Publications for gene: GALNS were set to
Hydrops fetalis v0.249 GALNS Zornitza Stark Mode of inheritance for gene: GALNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.248 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Hydrops fetalis v0.248 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.248 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphoedema-distichiasis syndrome, MIM:153400
Hydrops fetalis v0.247 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Hydrops fetalis v0.246 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.245 GBA Abhijit Kulkarni reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33897756, 33082562, 29854527; Phenotypes: GAUCHER DISEASE, MIM: 608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.245 GALNS Abhijit Kulkarni reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 33082562, 23137060; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrops fetalis v0.245 FOXC2 Abhijit Kulkarni reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301630, 2525212, 21918810, 25712632; Phenotypes: Lymphedema-distichiasis syndrome, MIM:153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.245 MDFIC Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.245 MDFIC Zornitza Stark Marked gene: MDFIC as ready
Hydrops fetalis v0.245 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Hydrops fetalis v0.245 MDFIC Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
Hydrops fetalis v0.245 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Hydrops fetalis v0.244 MDFIC Belinda Chong gene: MDFIC was added
gene: MDFIC was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to 35235341
Phenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193
Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise.

Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.
Sources: Literature
Hydrops fetalis v0.244 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Hydrops fetalis v0.244 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Hydrops fetalis v0.244 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from to Lymphatic malformation 1, MIM# 153100
Hydrops fetalis v0.243 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Hydrops fetalis v0.242 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.241 FLT4 Abhijit Kulkarni reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16231305, 16965327; Phenotypes: Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.241 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Hydrops fetalis v0.241 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Hydrops fetalis v0.241 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Sialic acid storage disorder, infantile, MIM# 269920
Hydrops fetalis v0.240 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Hydrops fetalis v0.239 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.238 SLC17A5 Abhijit Kulkarni reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34667062, 10546100; Phenotypes: INFANTILE SIALIC ACID STORAGE DISEASE, ISSD (#MIM: 269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from to Lymphatic malformation 7 (MIM#617300), AD
Hydrops fetalis v0.237 EPHB4 Zornitza Stark Publications for gene: EPHB4 were set to
Hydrops fetalis v0.236 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.235 GUSB Zornitza Stark Marked gene: GUSB as ready
Hydrops fetalis v0.235 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Hydrops fetalis v0.235 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Hydrops fetalis v0.234 GUSB Zornitza Stark Publications for gene: GUSB were set to
Hydrops fetalis v0.233 GUSB Zornitza Stark Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.232 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34302381; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.232 EPHB4 Abhijit Kulkarni reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 35178555; Phenotypes: Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756
Hydrops fetalis v0.231 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Hydrops fetalis v0.230 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 GUSB Abhijit Kulkarni reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30442200; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 SMPD1 Abhijit Kulkarni reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33082562; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 NEXN Zornitza Stark Marked gene: NEXN as ready
Hydrops fetalis v0.229 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Hydrops fetalis v0.229 NEXN Zornitza Stark Classified gene: NEXN as Green List (high evidence)
Hydrops fetalis v0.229 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Hydrops fetalis v0.228 NEXN Krithika Murali gene: NEXN was added
gene: NEXN was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were set to 33947203; 33949776; 35166435
Phenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Review for gene: NEXN was set to GREEN
Added comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy. Fetal Hydrops reported in two of these families.

PMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.


PMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis.

PMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history.
Sources: Literature
Hydrops fetalis v0.228 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Hydrops fetalis v0.228 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.228 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4; #MIM:610733
Hydrops fetalis v0.227 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Hydrops fetalis v0.226 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 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
Hydrops fetalis v0.225 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency, MIM# 606003
Hydrops fetalis v0.223 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Hydrops fetalis v0.222 TALDO1 Zornitza Stark Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.221 TALDO1 Zornitza Stark reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transaldolase deficiency, MIM# 606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.221 SOS1 Abhijit Kulkarni reviewed gene: SOS1: 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: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, #MIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hydrops fetalis v0.221 TALDO1 Abhijit Kulkarni reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35186000, 26238251; Phenotypes: Fetal Hydrops, Oligohydromnios, IUGR, Congenital Heart Disease, Hyperechogenic bowel; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrops fetalis v0.221 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Hydrops fetalis v0.221 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.221 MAPK1 Zornitza Stark reviewed gene: MAPK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 13 MIM#619087; Mode of inheritance: None
Hydrops fetalis v0.221 MAPK1 Elena Savva Classified gene: MAPK1 as Amber List (moderate evidence)
Hydrops fetalis v0.221 MAPK1 Elena Savva Gene: mapk1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.221 MAPK1 Elena Savva Classified gene: MAPK1 as Amber List (moderate evidence)
Hydrops fetalis v0.221 MAPK1 Elena Savva Gene: mapk1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.220 MAPK1 Elena Savva gene: MAPK1 was added
gene: MAPK1 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK1 were set to PMID: 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13 MIM#619087
Review for gene: MAPK1 was set to GREEN
Added comment: PMID: 32721402 - GOF de novo missense variants reported in Noonan patients. Patients showed DD, ID, craniofacial abnormalities and CHD

Supported by K/I mouse model
Sources: Literature
Hydrops fetalis v0.219 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Hydrops fetalis v0.219 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Hydrops fetalis v0.219 RPL15 Zornitza Stark Classified gene: RPL15 as Green List (high evidence)
Hydrops fetalis v0.219 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Hydrops fetalis v0.218 RPL15 Krithika Murali gene: RPL15 was added
gene: RPL15 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 20301769; 29599205; 23812780
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12 - MIM#615550; hydrops
Review for gene: RPL15 was set to GREEN
Added comment: Known association with Diamond Blackfan anaemia (~1% of cases) which in turn is known to be associated with congenital malformations (craniofacial, upper limb, heart and genitourinary malformations). 3 of 4 unrelated patients with truncating RPL15 variants had severe non-immune hydrops fetalis and required intrauterine transfusions.
Sources: Literature
Hydrops fetalis v0.218 SGPL1 Seb Lunke Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Hydrops fetalis v0.217 SGPL1 Seb Lunke Publications for gene: SGPL1 were set to 28165343
Hydrops fetalis v0.216 SGPL1 Seb Lunke reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.216 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Hydrops fetalis v0.216 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.216 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Hydrops fetalis v0.215 FOXP3 Zornitza Stark Publications for gene: FOXP3 were set to
Hydrops fetalis v0.214 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.213 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33637067, 30813833, 33330291; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.213 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Green List (high evidence)
Hydrops fetalis v0.213 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.212 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
Hydrops fetalis v0.212 ADAMTS3 Zornitza Stark edited their review of gene: ADAMTS3: Changed rating: GREEN; Changed phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154
Hydrops fetalis v0.212 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.211 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Hydrops fetalis v0.210 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Hydrops fetalis v0.209 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.208 CCBE1 Zornitza Stark reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.208 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops foetalis to Non-immune hydrops fetalis
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Marked gene: EHBP1L1 as ready
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Amber List (moderate evidence)
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.206 EHBP1L1 Krithika Murali gene: EHBP1L1 was added
gene: EHBP1L1 was added to Hydrops fetalis. Sources: Expert list,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786
Phenotypes for gene: EHBP1L1 were set to Non-immune hydrops foetalis
Review for gene: EHBP1L1 was set to AMBER
Added comment: Biallelic EHBP1L1 variants reported in 2 consanguineous families from Saudi Arabia with non-immune hydrops foetalis resulting in recurrent foetal loss. Supportive mouse models also previously reported.
Sources: Expert list, Literature
Hydrops fetalis v0.206 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Hydrops fetalis v0.206 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.206 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Hydrops fetalis. Sources: Expert Review
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ1 were set to 27539165
Phenotypes for gene: KCNQ1 were set to Long QT syndrome 1, 192500
Review for gene: KCNQ1 was set to RED
Added comment: Can present antenatally with bradycardia, but no specific mention of hydrops.
Sources: Expert Review
Hydrops fetalis v0.205 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Hydrops fetalis v0.205 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.205 KCNH2 Zornitza Stark gene: KCNH2 was added
gene: KCNH2 was added to Hydrops fetalis. Sources: Expert Review
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to 27492745
Phenotypes for gene: KCNH2 were set to long QT syndrome
Review for gene: KCNH2 was set to RED
Added comment: Single case report identified of presentation with hydrops.
Sources: Expert Review
Hydrops fetalis v0.204 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Hydrops fetalis v0.204 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Hydrops fetalis v0.204 SCN5A Zornitza Stark Classified gene: SCN5A as Green List (high evidence)
Hydrops fetalis v0.204 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Hydrops fetalis v0.203 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to Hydrops fetalis. Sources: Expert Review
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 Long QT syndrome 3 (MIM#603830)
Review for gene: SCN5A was set to GREEN
Added comment: Three families reported with severe perinatal presentation, including hydrops.
Sources: Expert Review
Hydrops fetalis v0.202 SLC30A5 Sue White Marked gene: SLC30A5 as ready
Hydrops fetalis v0.202 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.202 SLC30A5 Sue White Classified gene: SLC30A5 as Amber List (moderate evidence)
Hydrops fetalis v0.202 SLC30A5 Sue White Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.201 SLC30A5 Melanie Marty gene: SLC30A5 was added
gene: SLC30A5 was added to Hydrops fetalis. Sources: 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: Literature
Hydrops fetalis v0.201 CTSA Zornitza Stark Marked gene: CTSA as ready
Hydrops fetalis v0.201 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Hydrops fetalis v0.201 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540
Hydrops fetalis v0.200 CTSA Zornitza Stark Publications for gene: CTSA were set to
Hydrops fetalis v0.199 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.198 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8514852, 8968752; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.198 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 30690204
Hydrops fetalis v0.197 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Added comment: Two further families reported with this association in PMID 31608932; Changed publications: 30690204, 31608932
Hydrops fetalis v0.197 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Hydrops fetalis v0.197 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.197 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559
Hydrops fetalis v0.196 SOS2 Zornitza Stark Publications for gene: SOS2 were set to
Hydrops fetalis v0.195 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 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
Hydrops fetalis v0.194 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.193 SOS2 Zornitza Stark reviewed gene: SOS2: 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: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.193 CBL Zornitza Stark Marked gene: CBL as ready
Hydrops fetalis v0.193 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Hydrops fetalis v0.193 CBL Zornitza Stark Phenotypes for gene: CBL were changed from to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Hydrops fetalis v0.192 CBL Zornitza Stark Publications for gene: CBL were set to
Hydrops fetalis v0.191 CBL Zornitza Stark Mode of pathogenicity for gene: CBL 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
Hydrops fetalis v0.190 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.189 CBL Zornitza Stark reviewed gene: CBL: 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: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.189 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Hydrops fetalis v0.189 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.189 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from Cystic hygroma; hydrops; hydranencephal; arthrogryposis to Cystic hygroma; hydrops; hydranencephaly; arthrogryposis; Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Hydrops fetalis v0.188 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to PMID: 30712878
Hydrops fetalis v0.187 FLVCR2 Zornitza Stark Classified gene: FLVCR2 as Red List (low evidence)
Hydrops fetalis v0.187 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.186 FLVCR2 Zornitza Stark changed review comment from: Single case reported as part of big prenatal series.; to: Single case reported with cystic hygroma as part of big prenatal series. More typical presentation is with hydrocephalus, fetal akinesia, polyhydramnios.
Hydrops fetalis v0.186 FLVCR2 Zornitza Stark edited their review of gene: FLVCR2: Changed phenotypes: Cystic hygroma, Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Hydrops fetalis v0.186 FLVCR2 Zornitza Stark reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 30712878; Phenotypes: Cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.186 FLVCR2 John Christodoulou gene: FLVCR2 was added
gene: FLVCR2 was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR2 were set to PMID: 30712878
Phenotypes for gene: FLVCR2 were set to Cystic hygroma; hydrops; hydranencephal; arthrogryposis
Penetrance for gene: FLVCR2 were set to unknown
Review for gene: FLVCR2 was set to RED
Added comment: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study.

DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures.
Sources: Other
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Classified gene: ALPK3 as Amber List (moderate evidence)
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.185 ALPK3 Zornitza Stark gene: ALPK3 was added
gene: ALPK3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM# 618052
Review for gene: ALPK3 was set to AMBER
Added comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.
Sources: Expert list
Hydrops fetalis v0.184 BRAF Zornitza Stark Marked gene: BRAF as ready
Hydrops fetalis v0.184 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Hydrops fetalis v0.184 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome, MIM# 115150
Hydrops fetalis v0.183 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF 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
Hydrops fetalis v0.182 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.181 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis, MIM# 228000
Hydrops fetalis v0.180 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Hydrops fetalis v0.179 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.178 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26578498; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.178 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Hydrops fetalis v0.178 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Hydrops fetalis v0.178 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPBL were set to 30712880
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470
Review for gene: NIPBL was set to RED
Added comment: Single case presenting as hydrops reported in PAGE study.
Sources: Expert list
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Classified gene: FRAS1 as Amber List (moderate evidence)
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.176 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRAS1 were set to 27859469
Phenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM# 219000
Review for gene: FRAS1 was set to AMBER
Added comment: In a series of 38 antenatally ascertained cases, 9 had hydrops. However, 11/38 had molecular testing, and only 8 had molecularly confirmed diagnosis (FRAS1 variants, none in FREM2 or GRIP1).
Sources: Expert list
Hydrops fetalis v0.175 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Hydrops fetalis v0.174 CLCNKB Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops identified.
Sources: Expert list
Hydrops fetalis v0.174 CLCNKB Zornitza Stark edited their review of gene: CLCNKB: Changed publications: 23484775
Hydrops fetalis v0.174 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Hydrops fetalis v0.173 CLCNKA Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops found.
Sources: Expert list
Hydrops fetalis v0.173 CLCNKA Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found.
Sources: Expert list
Hydrops fetalis v0.173 CLCNKA Zornitza Stark edited their review of gene: CLCNKA: Changed publications: 23484775
Hydrops fetalis v0.173 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Hydrops fetalis v0.173 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.173 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 16450351
Phenotypes for gene: LAMB2 were set to Pierson syndrome, MIM# 609049
Review for gene: LAMB2 was set to RED
Added comment: Single family reported with antenatal presentation in four pregnancies, one had hydrops.
Sources: Expert list
Hydrops fetalis v0.172 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Hydrops fetalis v0.172 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.172 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to 16547991
Phenotypes for gene: ESCO2 were set to Roberts syndrome, MIM# 268300
Review for gene: ESCO2 was set to RED
Added comment: Single case report, diagnosis of Roberts syndrome not molecularly confirmed. Pregnancy complicated by T18 in other twin.
Sources: Expert list
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35D1 were set to 11200994
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, MIM# 269250
Review for gene: SLC35D1 was set to RED
Added comment: Single case report of hydrops, no molecular testing.
Sources: Expert list
Hydrops fetalis v0.170 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Hydrops fetalis v0.170 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.170 NEK1 Zornitza Stark edited their review of gene: NEK1: Changed rating: RED; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Hydrops fetalis v0.170 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK1 were set to 7491205; 15605271
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Review for gene: NEK1 was set to AMBER
Added comment: Hydrops reported but not in molecularly confirmed cases.
Sources: Expert list
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Amber List (moderate evidence)
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.168 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 27925158
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Review for gene: DYNC2H1 was set to AMBER
Added comment: Two families reported with severe antenatal presentation including chylothorax, ascites, oedema.
Sources: Expert list
Hydrops fetalis v0.167 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Hydrops fetalis v0.167 IFT122 Zornitza Stark Gene: ift122 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.167 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 28370949
Phenotypes for gene: IFT122 were set to Beemer-Langer syndrome
Review for gene: IFT122 was set to RED
Added comment: Single case report of a presentation consistent with the severe ciliopathy Beemer-Langer syndrome, and mild generalised oedema identified antenatally.
Sources: Expert list
Hydrops fetalis v0.166 UROS Zornitza Stark changed review comment from: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports.
Sources: Expert list; to: Hydrops is a listed feature in reviews of this condition. Two cases reported in PMID 12533808, but only a single variant identified so diagnosis not molecularly confirmed.
Sources: Expert list
Hydrops fetalis v0.166 UROS Zornitza Stark edited their review of gene: UROS: Changed publications: 24027798, 12533808; Changed phenotypes: Porphyria, congenital erythropoietic, MIM# 263700
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Marked gene: ITGA9 as ready
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Gene: itga9 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Tag disputed tag was added to gene: ITGA9.
Hydrops fetalis v0.166 ITGA9 Zornitza Stark gene: ITGA9 was added
gene: ITGA9 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ITGA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITGA9 were set to 21584887
Phenotypes for gene: ITGA9 were set to Chylothorax
Review for gene: ITGA9 was set to RED
Added comment: The p.Gly404Ser variant reported in PMID 21584887 in association with chylothorax in multiple fetuses is present in 672 hets and 11 homs in gnomad, which is out of keeping for a rare Mendelian disorder.
Sources: Expert list
Hydrops fetalis v0.165 EBP Zornitza Stark changed review comment from: XLD. Listed as a cause of hydrops in a review, cannot find reported cases.
Sources: Expert list; to: XLD. Listed as a cause of hydrops in a review, but can only find a single reported case.
Sources: Expert list
Hydrops fetalis v0.165 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 23137060, 25754886; Changed phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Hydrops fetalis v0.165 ARSE Zornitza Stark Marked gene: ARSE as ready
Hydrops fetalis v0.165 ARSE Zornitza Stark Gene: arse has been classified as Red List (Low Evidence).
Hydrops fetalis v0.165 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Review for gene: ARSE was set to RED
Added comment: Cannot find reports linking with hydrops.
Sources: Expert list
Hydrops fetalis v0.164 ARSA Zornitza Stark Marked gene: ARSA as ready
Hydrops fetalis v0.164 ARSA Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence).
Hydrops fetalis v0.164 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM# 250100
Review for gene: ARSA was set to RED
Added comment: MLD is a lysosomal disorder and several lysosomal disorders can present with hydrops. However symptom onset for MLD is typically 6-12 months, and I cannot find reports of hydrops associated with variants in ARSA.
Sources: Expert list
Hydrops fetalis v0.163 GDF2 Zornitza Stark changed review comment from: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT.
Sources: Literature; to: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT/PAH.
Sources: Literature
Hydrops fetalis v0.163 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Hydrops fetalis v0.163 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.163 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF2 were set to 32618121
Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops
Review for gene: GDF2 was set to RED
Added comment: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT.
Sources: Literature
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Marked gene: ADAMTS3 as ready
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Amber List (moderate evidence)
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.161 ADAMTS3 Zornitza Stark gene: ADAMTS3 was added
gene: ADAMTS3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 30450763; 28985353
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154
Review for gene: ADAMTS3 was set to AMBER
Added comment: 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
Hydrops fetalis v0.160 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Hydrops fetalis v0.160 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.160 GATA2 Zornitza Stark Classified gene: GATA2 as Amber List (moderate evidence)
Hydrops fetalis v0.160 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.159 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21892158
Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038
Review for gene: GATA2 was set to AMBER
Added comment: Typically presents with lower limb oedema but at least one presentation with hydrops reported.
Sources: Expert list
Hydrops fetalis v0.158 UROS Zornitza Stark Marked gene: UROS as ready
Hydrops fetalis v0.158 UROS Zornitza Stark Gene: uros has been classified as Red List (Low Evidence).
Hydrops fetalis v0.158 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 24027798
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, MIM# 263700
Review for gene: UROS was set to RED
Added comment: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports.
Sources: Expert list
Hydrops fetalis v0.157 SOX18 Zornitza Stark Marked gene: SOX18 as ready
Hydrops fetalis v0.157 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Hydrops fetalis v0.157 SOX18 Zornitza Stark Classified gene: SOX18 as Green List (high evidence)
Hydrops fetalis v0.157 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Hydrops fetalis v0.156 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOX18 were set to 12740761; 26631803
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Review for gene: SOX18 was set to GREEN
Added comment: Prenatal onset with hydrops reported in at least two cases.
Sources: Expert list
Hydrops fetalis v0.155 NPC2 Zornitza Stark changed review comment from: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease.
Sources: Expert list; to: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. One identified for NPC2-associated disease.
Sources: Expert list
Hydrops fetalis v0.155 NPC2 Zornitza Stark edited their review of gene: NPC2: Changed publications: 29928259; Changed phenotypes: Niemann-pick disease, type C2, MIM# 607625
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 16010481
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM# 212140
Review for gene: SLC22A5 was set to RED
Added comment: Single case report identified.
Sources: Expert list
Hydrops fetalis v0.154 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Hydrops fetalis v0.154 RPS26 Zornitza Stark Gene: rps26 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.154 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10, MIM# 613309
Review for gene: RPS26 was set to RED
Added comment: Hydrops is a feature of DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.153 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Hydrops fetalis v0.153 RPS24 Zornitza Stark Gene: rps24 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.153 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, MIM# 610629
Review for gene: RPS24 was set to RED
Added comment: Hydrops is a feature of DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.152 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Hydrops fetalis v0.152 RPS10 Zornitza Stark Gene: rps10 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.152 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9, MIM# 613308
Review for gene: RPS10 was set to RED
Added comment: Hydrops has been described in DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.151 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Hydrops fetalis v0.151 RPL5 Zornitza Stark Gene: rpl5 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.151 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL5 were set to 20301769
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6, MIM# 612561
Review for gene: RPL5 was set to RED
Added comment: Hydrops has been reported in DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.150 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Hydrops fetalis v0.150 RPL35A Zornitza Stark Gene: rpl35a has been classified as Red List (Low Evidence).
Hydrops fetalis v0.150 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35A were set to 20301769
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, MIM# 612528
Review for gene: RPL35A was set to RED
Added comment: Hydrops is a feature of DBS, but no specific case reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.149 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Hydrops fetalis v0.149 RPS19 Zornitza Stark Gene: rps19 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.149 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 23349008
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650
Review for gene: RPS19 was set to RED
Added comment: Single case report.
Sources: Expert list
Hydrops fetalis v0.148 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Hydrops fetalis v0.148 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.148 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 26096958
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM# 608354
Review for gene: RASA1 was set to RED
Added comment: Single case report.
Sources: Expert list
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R2 were set to 23754335
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: PIK3R2 was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Hydrops fetalis v0.146 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Hydrops fetalis v0.146 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Hydrops fetalis v0.146 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3CA were set to 23754335
Phenotypes for gene: PIK3CA were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: PIK3CA was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Hydrops fetalis v0.145 ALG1 Zornitza Stark edited their review of gene: ALG1: Changed rating: AMBER
Hydrops fetalis v0.145 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Hydrops fetalis v0.145 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Hydrops fetalis v0.145 SEC23B Zornitza Stark Classified gene: SEC23B as Green List (high evidence)
Hydrops fetalis v0.145 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Hydrops fetalis v0.144 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 29300242; 20381388
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100
Review for gene: SEC23B was set to GREEN
Added comment: Three cases reported of severe presentation including hydrops.
Sources: Expert list
Hydrops fetalis v0.143 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Hydrops fetalis v0.143 NPC2 Zornitza Stark Gene: npc2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.143 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM# 607625
Review for gene: NPC2 was set to RED
Added comment: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease.
Sources: Expert list
Hydrops fetalis v0.142 RYR1 Zornitza Stark edited their review of gene: RYR1: Changed rating: GREEN
Hydrops fetalis v0.142 MID1 Zornitza Stark Marked gene: MID1 as ready
Hydrops fetalis v0.142 MID1 Zornitza Stark Gene: mid1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.142 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MID1 were set to 3517843; 24863803
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I 300000
Review for gene: MID1 was set to RED
Added comment: Two reports of hydrops in Opitz G, in the context of complex congenital heart disease, one of them dating back to 1986, not molecularly confirmed.
Sources: Expert list
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500
Review for gene: MAN2B1 was set to RED
Added comment: Cannot find reports of hydrops associated with this particular lysosomal disorder.
Sources: Expert list
Hydrops fetalis v0.140 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Hydrops fetalis v0.140 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.140 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Hydrops fetalis v0.140 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.139 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 26537577; 32442335
Phenotypes for gene: LARS2 were set to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
Review for gene: LARS2 was set to GREEN
Added comment: Three families reported with multi-system disease including hydrops.
Sources: Expert list
Hydrops fetalis v0.138 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Hydrops fetalis v0.138 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
Hydrops fetalis v0.138 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: KDM6A was set to Other
Publications for gene: KDM6A were set to 27568880
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867
Review for gene: KDM6A was set to RED
Added comment: Reports of hydrops in KMT2D-related Kabuki syndrome, however no specific reports of hydrops in individuals with KDM6A-related Kabuki, XLD.
Sources: Expert list
Hydrops fetalis v0.137 HEXB Zornitza Stark Marked gene: HEXB as ready
Hydrops fetalis v0.137 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.137 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
Review for gene: HEXB was set to RED
Added comment: Cannot find specific reports of hydrops with this lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.136 HEXA Zornitza Stark Marked gene: HEXA as ready
Hydrops fetalis v0.136 HEXA Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence).
Hydrops fetalis v0.136 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, MIM# 272800
Review for gene: HEXA was set to RED
Added comment: Cannot find specific reports of hydrops in this lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.135 HBA1 Zornitza Stark Tag SV/CNV tag was added to gene: HBA1.
Hydrops fetalis v0.135 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Hydrops fetalis v0.135 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.135 HBA2 Zornitza Stark Phenotypes for gene: HBA2 were changed from to Thalassemia, alpha-, MIM# 604131
Hydrops fetalis v0.134 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.133 HBA2 Zornitza Stark Tag SV/CNV tag was added to gene: HBA2.
Hydrops fetalis v0.133 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.133 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Hydrops fetalis v0.133 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.133 HBA1 Zornitza Stark Phenotypes for gene: HBA1 were changed from to Thalassemias, alpha- , MIM#604131
Hydrops fetalis v0.132 HBA1 Zornitza Stark Mode of inheritance for gene: HBA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.131 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.131 HADHB Zornitza Stark Marked gene: HADHB as ready
Hydrops fetalis v0.131 HADHB Zornitza Stark Gene: hadhb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.131 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 26070998
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM# 609015
Review for gene: HADHB was set to RED
Added comment: Single case reported with prenatal onset cardiomyopathy and hydrops.
Sources: Expert list
Hydrops fetalis v0.130 HADHA Zornitza Stark Marked gene: HADHA as ready
Hydrops fetalis v0.130 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Hydrops fetalis v0.130 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 23137060; 11111210
Phenotypes for gene: HADHA were set to LCHAD deficiency, MIM# 609016
Review for gene: HADHA was set to RED
Added comment: Gene listed in a review as a cause of fetal hydrops, single case report identified to support link.
Sources: Expert list
Hydrops fetalis v0.129 HADH Zornitza Stark Marked gene: HADH as ready
Hydrops fetalis v0.129 HADH Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence).
Hydrops fetalis v0.129 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
Review for gene: HADH was set to RED
Added comment: Cannot find specific reports of hydrops associated with this metabolic disorder.
Sources: Expert list
Hydrops fetalis v0.128 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hydrops fetalis v0.127 GPI Zornitza Stark Marked gene: GPI as ready
Hydrops fetalis v0.127 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Hydrops fetalis v0.127 GPI Zornitza Stark Classified gene: GPI as Green List (high evidence)
Hydrops fetalis v0.127 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Hydrops fetalis v0.126 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPI were set to 29227722; 3796702; 469896; 26509025
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470
Review for gene: GPI was set to GREEN
Added comment: Severe presentation with hydrops reported in at least four cases.
Sources: Expert list
Hydrops fetalis v0.125 GALC Zornitza Stark Marked gene: GALC as ready
Hydrops fetalis v0.125 GALC Zornitza Stark Gene: galc has been classified as Red List (Low Evidence).
Hydrops fetalis v0.125 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200
Review for gene: GALC was set to RED
Added comment: Cannot find reports of hydrops with this specific lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.124 G6PD Zornitza Stark Marked gene: G6PD as ready
Hydrops fetalis v0.124 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Hydrops fetalis v0.124 G6PD Zornitza Stark Phenotypes for gene: G6PD were changed from emolytic anemia, G6PD deficient (favism), MIM# 300908 to Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Hydrops fetalis v0.123 G6PD Zornitza Stark edited their review of gene: G6PD: Changed phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Hydrops fetalis v0.123 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: G6PD were set to 23719252; 24999569
Phenotypes for gene: G6PD were set to emolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to RED
Added comment: Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor.
Sources: Expert list
Hydrops fetalis v0.122 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Hydrops fetalis v0.122 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.122 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, MIM# 230000
Review for gene: FUCA1 was set to RED
Added comment: Cannot find specific reports of hydrops in this lysosomal disorder, though several others can present with hydrops.
Sources: Expert list
Hydrops fetalis v0.121 DMPK Zornitza Stark edited their review of gene: DMPK: Changed publications: 9134395, 8140064; Changed phenotypes: Myotonic dystrophy 1, MIM# 160900
Hydrops fetalis v0.121 EBP Zornitza Stark Marked gene: EBP as ready
Hydrops fetalis v0.121 EBP Zornitza Stark Gene: ebp has been classified as Red List (Low Evidence).
Hydrops fetalis v0.121 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: EBP was set to Other
Publications for gene: EBP were set to 23137060
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Review for gene: EBP was set to RED
Added comment: XLD. Listed as a cause of hydrops in a review, cannot find reported cases.
Sources: Expert list
Hydrops fetalis v0.120 FH Zornitza Stark Marked gene: FH as ready
Hydrops fetalis v0.120 FH Zornitza Stark Gene: fh has been classified as Red List (Low Evidence).
Hydrops fetalis v0.120 FH Zornitza Stark gene: FH was added
gene: FH was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FH were set to 23137060
Phenotypes for gene: FH were set to Fumarase deficiency, MIM# 606812
Review for gene: FH was set to RED
Added comment: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.
Sources: Expert list
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Classified gene: FGFR3 as Green List (high evidence)
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.118 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR3 were set to 24075385
Phenotypes for gene: FGFR3 were set to Thanatophoric dysplasia
Review for gene: FGFR3 was set to GREEN
Added comment: Severe FGFR3-related disease can cause reduced fetal movements and hydrops.
Sources: Expert list
Hydrops fetalis v0.117 DMPK Zornitza Stark Marked gene: DMPK as ready
Hydrops fetalis v0.117 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.117 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Hydrops fetalis v0.117 DMPK Zornitza Stark Classified gene: DMPK as Green List (high evidence)
Hydrops fetalis v0.117 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.116 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMPK were set to 9134395
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1, MIM# 160900
Review for gene: DMPK was set to GREEN
Added comment: Reduced fetal movements and hydrops reported. Note triplet expansion may not be tractable depending on the assay used.
Sources: Expert list
Hydrops fetalis v0.115 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Hydrops fetalis v0.115 AKT3 Zornitza Stark Gene: akt3 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.115 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT3 were set to 23754335
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: AKT3 was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Hydrops fetalis v0.114 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Hydrops fetalis v0.114 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.114 PRF1 Zornitza Stark Classified gene: PRF1 as Green List (high evidence)
Hydrops fetalis v0.114 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.113 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Hydrops fetalis v0.113 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Hydrops fetalis v0.113 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Single family reported with several affected pregnancies.
Sources: Literature
Hydrops fetalis v0.112 PRF1 Tegan French gene: PRF1 was added
gene: PRF1 was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to PMID: 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2 AR; Lymphoma, non-Hodgkin
Penetrance for gene: PRF1 were set to Complete
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: Other
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from to Noonan syndrome 10; Noonan syndrome 2; {Schwannomatosis-2, susceptibility to}
Hydrops fetalis v0.111 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to
Hydrops fetalis v0.110 LZTR1 Zornitza Stark Mode of pathogenicity for gene: LZTR1 was changed from to Other
Hydrops fetalis v0.109 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.108 LZTR1 Elena Savva reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25795793, 29469822, 30368668, 30481304, 24362817; Phenotypes: Noonan syndrome 10, Noonan syndrome 2, {Schwannomatosis-2, susceptibility to}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, MIM# 616580
Hydrops fetalis v0.107 HNRNPK Sue White Classified gene: HNRNPK as Green List (high evidence)
Hydrops fetalis v0.107 HNRNPK Sue White Gene: hnrnpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.106 HNRNPK Sue White edited their review of gene: HNRNPK: Set current diagnostic: yes
Hydrops fetalis v0.106 HNRNPK Sue White gene: HNRNPK was added
gene: HNRNPK was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
Added comment: case presentation of patient and literature review shows patients can present with hydrops
Sources: Other
Hydrops fetalis v0.105 Zornitza Stark Panel name changed from Hydrops fetalis_VCGS to Hydrops fetalis
Panel types changed to Victorian Clinical Genetics Services
Hydrops fetalis v0.104 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.104 PTH1R Zornitza Stark Classified gene: PTH1R as Green List (high evidence)
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.103 PKLR Zornitza Stark Marked gene: PKLR as ready
Hydrops fetalis v0.103 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Hydrops fetalis v0.103 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from to Pyruvate Kinase deficiency, MIM# 266200
Hydrops fetalis v0.102 PKLR Zornitza Stark Classified gene: PKLR as Green List (high evidence)
Hydrops fetalis v0.102 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Hydrops fetalis v0.101 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Hydrops fetalis v0.101 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.101 RPL11 Zornitza Stark Classified gene: RPL11 as Red List (low evidence)
Hydrops fetalis v0.101 RPL11 Zornitza Stark Gene: rpl11 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.100 RPL11 George McGillivray gene: RPL11 was added
gene: RPL11 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7
Review for gene: RPL11 was set to RED
Added comment: I can't find a published link between RPL11 and hydrops fetalis.
However, there are 8 Case reports of DBA (molecular type not specified) with hydrops fetalis so this gene/ DBA phenotype should be revisited in future
PMIDs 8926615;8734811;8734811;9166327;3140685;14655096;3222219;15004307;17828794
Sources: Expert list
Hydrops fetalis v0.100 PKLR George McGillivray edited their review of gene: PKLR: Changed phenotypes: Pyruvate Kinase deficiency
Hydrops fetalis v0.100 PTH1R George McGillivray gene: PTH1R was added
gene: PTH1R was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 3975110; 9268097; 8723092
Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Review for gene: PTH1R was set to GREEN
Added comment: PMID 3975110
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
PMID 9268097
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
PMID 8723092:
Both fetuses hydropic, one grossly so.
Sources: Expert list
Hydrops fetalis v0.100 PKLR George McGillivray gene: PKLR was added
gene: PKLR was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 29549173; 8285758; 10923218
Review for gene: PKLR was set to GREEN
Added comment: PMID 29549173:
A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%.
Sources: Expert list
Hydrops fetalis v0.100 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.99 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Hydrops fetalis v0.99 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.99 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 29300242; 25724378; 28265383
Hydrops fetalis v0.98 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia
Hydrops fetalis v0.97 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Hydrops fetalis v0.97 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.96 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Hydrops fetalis v0.96 TRIP11 Zornitza Stark Gene: trip11 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Hydrops fetalis v0.95 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.94 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Can present with hydrops antenatally.
Sources: Expert list
Hydrops fetalis v0.94 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM# 617575
Review for gene: SGPL1 was set to GREEN
Added comment: Can present with hydrops antenatally.
Sources: Expert list
Hydrops fetalis v0.93 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Hydrops fetalis v0.93 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.93 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to Central core disease, MIM# 117000; Multiple pterygium syndrome
Hydrops fetalis v0.92 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Hydrops fetalis v0.91 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.90 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: ; Mode of pathogenicity: None; Publications: 28543167, 26932181; Phenotypes: Central core disease, MIM# 117000, Multiple pterygium syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.90 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Hydrops fetalis v0.90 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.90 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 2, MIM# 618388 to Fetal akinesia deformation sequence 2, MIM# 618388
Hydrops fetalis v0.89 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388
Hydrops fetalis v0.89 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Hydrops fetalis v0.88 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Hydrops fetalis v0.88 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.88 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.87 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.87 RAPSN Zornitza Stark Classified gene: RAPSN as Red List (low evidence)
Hydrops fetalis v0.87 RAPSN Zornitza Stark Gene: rapsn has been classified as Red List (Low Evidence).
Hydrops fetalis v0.86 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: 18252226; Phenotypes: Fetal akinesia deformation sequence 2, MIM# 618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.86 MUSK Zornitza Stark Marked gene: MUSK as ready
Hydrops fetalis v0.86 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Hydrops fetalis v0.86 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150
Hydrops fetalis v0.85 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.84 MUSK Zornitza Stark Publications for gene: MUSK were set to 31750350; 25537362
Hydrops fetalis v0.84 MUSK Zornitza Stark Publications for gene: MUSK were set to 31750350; 25537362
Hydrops fetalis v0.83 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.83 MUSK Zornitza Stark Publications for gene: MUSK were set to
Hydrops fetalis v0.83 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.82 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31750350, 25537362; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.82 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Hydrops fetalis v0.82 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hydrops fetalis v0.82 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Hydrops fetalis v0.82 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.81 KLHL40 Zornitza Stark Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.80 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Hydrops fetalis v0.79 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Hydrops fetalis v0.78 KLHL40 Zornitza Stark Classified gene: KLHL40 as Amber List (moderate evidence)
Hydrops fetalis v0.78 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.77 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: None; Publications: 25721947; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.77 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Hydrolethalus; short rib polydactyly to Hydrolethalus; short rib polydactyly
Hydrops fetalis v0.76 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to 26166481
Hydrops fetalis v0.75 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Hydrolethalus to Hydrolethalus; short rib polydactyly
Hydrops fetalis v0.75 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to KIAA0586
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Red List (low evidence)
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Added comment: Comment on list classification: Only one individual with hydrops from a series of 8; emerging gene, phenotype yet to be delineated.
Hydrops fetalis v0.74 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.73 KMT2D George McGillivray gene: KMT2D was added
gene: KMT2D was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 30293990; 27568880; 15690368
Phenotypes for gene: KMT2D were set to Kabuki syndrome
Review for gene: KMT2D was set to GREEN
Added comment: In the first two publications there are two patients, one in each, with truncating mutations in KTM2D and hydrops fetalis. In the third paper, the prevalence of hydrops fetalis was 3/20 in patients with a clinical diagnosis pre-KTM2D.
Sources: Expert list
Hydrops fetalis v0.73 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Hurler syndrome, MPS 1 to Hurler syndrome, MPS 1
Hydrops fetalis v0.73 IDUA Zornitza Stark Marked gene: IDUA as ready
Hydrops fetalis v0.73 IDUA Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.73 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Hurler syndrome, MPS 1
Hydrops fetalis v0.72 IDUA Zornitza Stark Publications for gene: IDUA were set to
Hydrops fetalis v0.71 IDUA Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.70 IDUA Zornitza Stark Classified gene: IDUA as Amber List (moderate evidence)
Hydrops fetalis v0.70 IDUA Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.69 IDUA Zornitza Stark reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Hurler syndrome, MPS 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.69 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Hydrops fetalis v0.69 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Hydrops fetalis v0.69 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.68 KAT6B Zornitza Stark Classified gene: KAT6B as Red List (low evidence)
Hydrops fetalis v0.68 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Hydrops fetalis v0.67 KIF23 George McGillivray reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: None; Publications: 9490563, 7711721; Phenotypes: congenital dyserythropoietic anaemia type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.67 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Hydrops fetalis v0.67 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.67 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anaemia
Hydrops fetalis v0.66 KIF23 Zornitza Stark Publications for gene: KIF23 were set to
Hydrops fetalis v0.65 KIF23 Zornitza Stark Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.64 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Hydrops fetalis v0.64 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.63 KIF23 Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.63 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Hydrops fetalis v0.62 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.61 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Hydrops fetalis v0.60 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.59 DOK7 Zornitza Stark Classified gene: DOK7 as Amber List (moderate evidence)
Hydrops fetalis v0.59 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.58 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31880392, 19261599; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.58 COLQ Zornitza Stark Marked gene: COLQ as ready
Hydrops fetalis v0.58 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Hydrops fetalis v0.58 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, MIM# 603034 to Myasthenic syndrome, congenital, 5, MIM# 603034
Hydrops fetalis v0.57 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034
Hydrops fetalis v0.57 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.56 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.55 COLQ Zornitza Stark Classified gene: COLQ as Red List (low evidence)
Hydrops fetalis v0.55 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Hydrops fetalis v0.54 COLQ Zornitza Stark reviewed gene: COLQ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.54 CHRNG Zornitza Stark commented on gene: CHRNG: Typically presents with cystic hygroma/hydrops fetalis.
Hydrops fetalis v0.54 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Hydrops fetalis v0.54 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Hydrops fetalis v0.54 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.53 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.52 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.52 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Hydrops fetalis v0.52 CHRNE Zornitza Stark Gene: chrne has been classified as Red List (Low Evidence).
Hydrops fetalis v0.52 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from to Congenital myasthenic syndromes
Hydrops fetalis v0.51 CHRNE Zornitza Stark Mode of inheritance for gene: CHRNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.50 CHRNE Zornitza Stark Classified gene: CHRNE as Red List (low evidence)
Hydrops fetalis v0.50 CHRNE Zornitza Stark Gene: chrne has been classified as Red List (Low Evidence).
Hydrops fetalis v0.49 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndromes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.49 KLF1 George McGillivray reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300242, 25724378, 28265383; Phenotypes: Congenital Dyserythropoietic Anemia Type IV, severe nonspherocytic hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.49 CHRND Zornitza Stark Marked gene: CHRND as ready
Hydrops fetalis v0.49 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Hydrops fetalis v0.49 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.48 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.47 CHRND Zornitza Stark commented on gene: CHRND: Typically presents with cystic hygroma/hydrops fetalis.
Hydrops fetalis v0.47 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.47 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Hydrops fetalis v0.46 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.45 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.45 KIAA0586 George McGillivray gene: KIAA0586 was added
gene: KIAA0586 was added to Hydrops fetalis_VCGS. Sources: Other
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to KIAA0586
Phenotypes for gene: KIAA0586 were set to Hydrolethalus
Review for gene: KIAA0586 was set to AMBER
Added comment: 20191230:
PMID 26166481 reports a single case from 8 affected from 4 families
Sources: Other
Hydrops fetalis v0.45 KAT6B George McGillivray gene: KAT6B was added
gene: KAT6B was added to Hydrops fetalis_VCGS. Sources: Other
Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: KAT6B was set to RED
Added comment: 20191230- Currently on the Greenwood Genetic Centre List but no Pubmed evidence that I can find
Sources: Other
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Added comment: Comment when marking as ready: This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.45 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.44 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.44 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 30690204
Hydrops fetalis v0.43 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Hydrops fetalis v0.42 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.41 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690204; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.41 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Hydrops fetalis v0.41 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.41 ALG1 Zornitza Stark Classified gene: ALG1 as Amber List (moderate evidence)
Hydrops fetalis v0.41 ALG1 Zornitza Stark Added comment: Comment on list classification: CDGs are a recognised cause of nonimmune fetal hydrops; however, single report of ALG1 and hydrops identified.
Hydrops fetalis v0.41 ALG1 Zornitza Stark Gene: alg1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.40 TRIP11 Zornitza Stark Classified gene: TRIP11 as Amber List (moderate evidence)
Hydrops fetalis v0.40 TRIP11 Zornitza Stark Gene: trip11 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.39 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP11 were set to 30951048; 8897040
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, MIM# 200600
Review for gene: TRIP11 was set to AMBER
Added comment: Case reports of hydrops in radiographically diagnosed babies.
Sources: Expert list
Hydrops fetalis v0.38 TAZ Zornitza Stark Marked gene: TAZ as ready
Hydrops fetalis v0.38 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Hydrops fetalis v0.38 TAZ Zornitza Stark Publications for gene: TAZ were set to 29476731; 31598953
Hydrops fetalis v0.37 TAZ Zornitza Stark Classified gene: TAZ as Green List (high evidence)
Hydrops fetalis v0.37 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Hydrops fetalis v0.36 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 29476731; 31598953
Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
Review for gene: TAZ was set to GREEN
Added comment: Cardiomyopathy is a recognised feature and hydrops has been described in case reports.
Sources: Expert list
Hydrops fetalis v0.35 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Hydrops fetalis v0.35 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.35 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 31497481
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, MIM# 272200
Review for gene: SUMF1 was set to RED
Added comment: Single case report found of hydrops in this metabolic condition.
Sources: Expert list
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Marked gene: SLC26A2 as ready
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Classified gene: SLC26A2 as Amber List (moderate evidence)
Hydrops fetalis v0.34 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.33 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A2 were set to 31880411
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, MIM# 600972
Review for gene: SLC26A2 was set to AMBER
Added comment: Hydrops can be a presenting feature of this skeletal dysplasia, one case report found.
Sources: Expert list
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Added comment: Comment on list classification: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Hydrops fetalis v0.32 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.31 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 30838783; 27475004
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038
Review for gene: PSAT1 was set to GREEN
Added comment: Hydrops can be a presenting feature.
Sources: Expert list
Hydrops fetalis v0.30 PIGA Zornitza Stark Marked gene: PIGA as ready
Hydrops fetalis v0.30 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Hydrops fetalis v0.30 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868
Review for gene: PIGA was set to RED
Added comment: Cannot find specific reports of hydrops though it is listed as a feature in OMIM.
Sources: Expert list
Hydrops fetalis v0.29 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Hydrops fetalis v0.29 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Hydrops fetalis v0.29 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Hydrops fetalis v0.29 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Hydrops fetalis v0.28 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 11895570; 11494295
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520
Review for gene: PHGDH was set to GREEN
Added comment: Oedema/hydrops is a presenting feature antenatally.
Sources: Expert list
Hydrops fetalis v0.28 MVK Zornitza Stark Marked gene: MVK as ready
Hydrops fetalis v0.28 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.28 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Hydrops fetalis v0.28 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.27 MVK Zornitza Stark Publications for gene: MVK were set to 27012807; 28603204; 23146290
Hydrops fetalis v0.26 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Hydrops fetalis v0.26 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Hydrops fetalis v0.26 MVK Zornitza Stark Publications for gene: MVK were set to 27012807
Hydrops fetalis v0.25 MVK Zornitza Stark Classified gene: MVK as Amber List (moderate evidence)
Hydrops fetalis v0.25 MVK Zornitza Stark Added comment: Comment on list classification: Unclear how many cases have presented with hydrops, mostly historical literature.
Hydrops fetalis v0.25 MVK Zornitza Stark Gene: mvk has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.24 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807
Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM#610377
Review for gene: MVK was set to GREEN
Added comment: Hydrops described in severe presentations of this metabolic condition.
Sources: Expert list
Hydrops fetalis v0.23 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Hydrops fetalis v0.23 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.23 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 31420886
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa , MIM#212066
Review for gene: MGAT2 was set to RED
Added comment: One report of hydrops as a presenting feature, though a number of CDGs have been reported as presenting with hydrops
Sources: Expert list
Hydrops fetalis v0.22 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Hydrops fetalis v0.22 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.22 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Hydrops fetalis v0.22 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.21 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Hydrops fetalis_VCGS. 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
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Hydrops fetalis v0.20 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.19 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 14735596; 10215064; 9856557
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#270400
Review for gene: DHCR7 was set to GREEN
Added comment: Nuchal oedema in 3/30 cases in a series, PMID 14735596; another case report 10215064; another family reported in 9856557. Rare manifestation of relatively common condition.
Sources: Expert list
Hydrops fetalis v0.18 COG6 Zornitza Stark Marked gene: COG6 as ready
Hydrops fetalis v0.18 COG6 Zornitza Stark Gene: cog6 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.18 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 31420886
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type Iil, MIM#614576
Review for gene: COG6 was set to RED
Added comment: One family reported with hydrops, though hydrops is a presenting feature of a number of CDGs.
Sources: Expert list
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Classified gene: COL2A1 as Green List (high evidence)
Hydrops fetalis v0.17 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.16 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Review for gene: COL2A1 was set to GREEN
Added comment: Hydrops is a presenting feature.
Sources: Expert list
Hydrops fetalis v0.15 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Hydrops fetalis v0.15 CLCNKA Zornitza Stark Gene: clcnka has been classified as Red List (Low Evidence).
Hydrops fetalis v0.15 CLCNKA Zornitza Stark gene: CLCNKA was added
gene: CLCNKA was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CLCNKA was set to Other
Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic, MIM#613090
Review for gene: CLCNKA was set to RED
Added comment: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list
Hydrops fetalis v0.14 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Hydrops fetalis v0.14 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.14 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CLCNKB was set to Other
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, MIM#613090
Review for gene: CLCNKB was set to RED
Added comment: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Classified gene: CDAN1 as Green List (high evidence)
Hydrops fetalis v0.13 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.12 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, MIM#224120
Review for gene: CDAN1 was set to GREEN
Added comment: Can present with fetal hydrops.
Sources: Expert list
Hydrops fetalis v0.11 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Hydrops fetalis v0.11 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.11 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CANT1 were set to 21654728; 20358610
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, MIM#251450
Review for gene: CANT1 was set to RED
Added comment: Hydrops is a rare manifestation reported in Debuquois dysplasia, two families.
Sources: Expert list
Hydrops fetalis v0.10 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Hydrops fetalis v0.10 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Hydrops fetalis v0.10 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Hydrops fetalis v0.10 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Hydrops fetalis v0.9 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 26453364; 31420886
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776
Review for gene: ALG9 was set to GREEN
Added comment: Hydrops reported in 20% of individuals in a review.
Sources: Expert list
Hydrops fetalis v0.8 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Hydrops fetalis v0.8 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.8 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Hydrops fetalis v0.7 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Hydrops fetalis v0.7 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Hydrops fetalis v0.6 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 26066342
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#608104
Review for gene: ALG8 was set to GREEN
Added comment: Sources: Expert list
Hydrops fetalis v0.5 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Hydrops fetalis v0.5 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.5 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Hydrops fetalis v0.4 ALG1 Zornitza Stark Classified gene: ALG1 as Green List (high evidence)
Hydrops fetalis v0.4 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.3 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, MIM#608540
Review for gene: ALG1 was set to GREEN
Added comment: Hydrops fetalis is part of the phenotype.
Sources: Expert list
Hydrops fetalis v0.2 AHCY Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence)
Hydrops fetalis v0.2 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.1 AHCY Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence)
Hydrops fetalis v0.1 AHCY Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.0 AHCY Zornitza Stark Marked gene: AHCY as ready
Hydrops fetalis v0.0 AHCY Zornitza Stark Gene: ahcy has been removed from the panel.
Hydrops fetalis v0.0 AHCY George McGillivray gene: AHCY was added
gene: AHCY was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 30121674; 20852937
Phenotypes for gene: AHCY were set to 613752
Review for gene: AHCY was set to AMBER
Added comment: PMID 30121674:
A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension...
PMID 20852937:
This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly
Sources: Expert list
Hydrops fetalis v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TALDO1 was set to Unknown
Hydrops fetalis v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOS2 was set to Unknown
Hydrops fetalis v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOS1 was set to Unknown
Hydrops fetalis v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMPD1 was set to Unknown
Hydrops fetalis v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC17A5 was set to Unknown
Hydrops fetalis v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHOC2 was set to Unknown
Hydrops fetalis v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RYR1 was set to Unknown
Hydrops fetalis v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RIT1 was set to Unknown
Hydrops fetalis v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAPSN was set to Unknown
Hydrops fetalis v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAF1 was set to Unknown
Hydrops fetalis v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPN11 was set to Unknown
Hydrops fetalis v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMM2 was set to Unknown
Hydrops fetalis v0.0 PIEZO1 Zornitza Stark gene: PIEZO1 was added
gene: PIEZO1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIEZO1 was set to Unknown
Hydrops fetalis v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX7 was set to Unknown
Hydrops fetalis v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX6 was set to Unknown
Hydrops fetalis v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX5 was set to Unknown
Hydrops fetalis v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX3 was set to Unknown
Hydrops fetalis v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX26 was set to Unknown
Hydrops fetalis v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX2 was set to Unknown
Hydrops fetalis v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX19 was set to Unknown
Hydrops fetalis v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX16 was set to Unknown
Hydrops fetalis v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX14 was set to Unknown
Hydrops fetalis v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX13 was set to Unknown
Hydrops fetalis v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX12 was set to Unknown
Hydrops fetalis v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX11B was set to Unknown
Hydrops fetalis v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX10 was set to Unknown
Hydrops fetalis v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX1 was set to Unknown
Hydrops fetalis v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NRAS was set to Unknown
Hydrops fetalis v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPC1 was set to Unknown
Hydrops fetalis v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEU1 was set to Unknown
Hydrops fetalis v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MUSK was set to Unknown
Hydrops fetalis v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K2 was set to Unknown
Hydrops fetalis v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K1 was set to Unknown
Hydrops fetalis v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LZTR1 was set to Unknown
Hydrops fetalis v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPA was set to Unknown
Hydrops fetalis v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LBR was set to Unknown
Hydrops fetalis v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRAS was set to Unknown
Hydrops fetalis v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLHL40 was set to Unknown
Hydrops fetalis v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLF1 was set to Unknown
Hydrops fetalis v0.0 KIF23 Zornitza Stark gene: KIF23 was added
gene: KIF23 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF23 was set to Unknown
Hydrops fetalis v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IDUA was set to Unknown
Hydrops fetalis v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HRAS was set to Unknown
Hydrops fetalis v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HBA2 was set to Unknown
Hydrops fetalis v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HBA1 was set to Unknown
Hydrops fetalis v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GUSB was set to Unknown
Hydrops fetalis v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNPTAB was set to Unknown
Hydrops fetalis v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLE1 was set to Unknown
Hydrops fetalis v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLB1 was set to Unknown
Hydrops fetalis v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLA was set to Unknown
Hydrops fetalis v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to Unknown
Hydrops fetalis v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA was set to Unknown
Hydrops fetalis v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALNS was set to Unknown
Hydrops fetalis v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP3 was set to Unknown
Hydrops fetalis v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to Unknown
Hydrops fetalis v0.0 FLT4 Zornitza Stark gene: FLT4 was added
gene: FLT4 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLT4 was set to Unknown
Hydrops fetalis v0.0 EPHB4 Zornitza Stark gene: EPHB4 was added
gene: EPHB4 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPHB4 was set to Unknown
Hydrops fetalis v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOK7 was set to Unknown
Hydrops fetalis v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSA was set to Unknown
Hydrops fetalis v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COLQ was set to Unknown
Hydrops fetalis v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNG was set to Unknown
Hydrops fetalis v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNE was set to Unknown
Hydrops fetalis v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRND was set to Unknown
Hydrops fetalis v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNA1 was set to Unknown
Hydrops fetalis v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCBE1 was set to Unknown
Hydrops fetalis v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CBL was set to Unknown
Hydrops fetalis v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRAF was set to Unknown
Hydrops fetalis v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP1A2 was set to Unknown
Hydrops fetalis v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASAH1 was set to Unknown
Hydrops fetalis v0.0 Zornitza Stark Added panel Hydrops fetalis_VCGS