Cerebellar hypoplasia

Gene: WDR37

No list

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

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

In PMID: 31474318 found 5 patient with DNM WDR37 variant and cerebellar hypoplasia (see suplements of the paper).
Sources: Literature
Created: 26 Jul 2021, 7:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurooculocardiogenitourinary syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Neurooculocardiogenitourinary syndrome
Clinvar variants
Variants in WDR37
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: WDR37 was added gene: WDR37 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to PMID: 31474318 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome Penetrance for gene: WDR37 were set to Complete Review for gene: WDR37 was set to GREEN gene: WDR37 was marked as current diagnostic