1. Panels
  2. Cerebellar and Pontocerebellar Hypoplasia
  3. WDR37
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Cerebellar and Pontocerebellar Hypoplasia

Gene: WDR37

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported to cause cerebellar hypoplasia and brainstem hypoplasia (especially pons)

PMID: 31327508; Kanca 2019: 4 de novo missense in 5 unrelated probands. Cerebellar hypoplasia present in all 5 individuals
Created: 15 Apr 2020, 5:12 a.m. | Last Modified: 15 Apr 2020, 5:12 a.m.
Panel Version: 0.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurooculocardiogenitourinary syndrome (MIM#618652)

Publications

Created: 15 Apr 2020, 5:12 a.m.
Last Modified: 15 Apr 2020, 5:12 a.m.
Panel version: 0.19

Details

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

History Filter Activity

15 Apr 2020, 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).

15 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome (MIM#618652)

15 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WDR37 were set to

15 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR37 was added gene: WDR37 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WDR37 was set to Unknown