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  3. WDR47
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Callosome

Gene: WDR47

Green List (high evidence)
WDR47 (WD repeat domain 47)
EnsemblGeneIds (GRCh38): ENSG00000085433
EnsemblGeneIds (GRCh37): ENSG00000085433
OMIM: 615734, Gene2Phenotype
WDR47 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype.
Sources: Literature
Created: 6 Dec 2024, 12:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex neurodevelopmental disorder MONDO:0100038, WDR47-related

Publications

Created: 6 Dec 2024, 12:41 a.m.

Panel version: 0.539

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder MONDO:0100038, WDR47-related
OMIM
615734
Clinvar variants
Variants in WDR47
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: wdr47 has been classified as Green List (High Evidence).

6 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: wdr47 has been classified as Green List (High Evidence).

6 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: WDR47 was added gene: WDR47 was added to Callosome. Sources: Literature Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR47 were set to 39609633 Phenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Review for gene: WDR47 was set to GREEN