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Fetal anomalies

Gene: WDR37

Green List (high evidence)

WDR37 (WD repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000047056
EnsemblGeneIds (GRCh37): ENSG00000047056
WDR37 is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed. Nine unrelated patients reported with de novo missense mutations in the WDR37 gene.
Sources: Expert list
Created: 28 Feb 2022, 6:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurooculocardiogenitourinary syndrome MIM#618652

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurooculocardiogenitourinary syndrome MIM#618652
Clinvar variants
Variants in WDR37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr37 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: wdr37 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: WDR37 was added gene: WDR37 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to PMID: 31327508, 31327510 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome MIM#618652 Review for gene: WDR37 was set to GREEN