1. Panels
  2. Cerebellar hypoplasia
  3. WDR37
STRs in panel
Prev Next
Regions in panel
Prev Next

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 (Children's Clinical University Hospital)

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

Created: 26 Jul 2021, 7:02 p.m.

Panel version: 1.53

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 (Children's Clinical University Hospital)

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