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  3. WDR47
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Intellectual disability

Gene: WDR47

Amber List (moderate evidence)
WDR47 (WD repeat domain 47)
EnsemblGeneIds (GRCh38): ENSG00000085433
EnsemblGeneIds (GRCh37): ENSG00000085433
OMIM: 615734, Gene2Phenotype
WDR47 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (four unrelated families) for the promotion of this gene to green rating on the next GMS update.
Created: 1 Feb 2025, 7:44 p.m. | Last Modified: 1 Feb 2025, 7:44 p.m.
Panel Version: 8.52
Comment on publications: PMID:39609633 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 1 Feb 2025, 7:40 p.m. | Last Modified: 1 Feb 2025, 7:40 p.m.
Panel Version: 8.50
PMID:39609633 reported seven patients from five unrelated families with either homozygous or compound heterozygous variants in WDR47 gene. They all presented with a complex neurodevelopmental syndrome comprising corpus callosum dysgenesis, microcephaly, intellectual disability and epilepsy. Profound intellectual disability was present in four of five reported families.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 1 Feb 2025, 7:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 1 Feb 2025, 7:38 p.m.

Panel version: 8.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
gene-checked Q1_25_ promote_green
OMIM
615734
Clinvar variants
Variants in WDR47
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: WDR47.

1 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: WDR47 were changed from neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

1 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: wdr47 has been classified as Amber List (Moderate Evidence).

1 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: wdr47 has been classified as Amber List (Moderate Evidence).

1 Feb 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ promote_green tag was added to gene: WDR47.

1 Feb 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: WDR47 were set to 39609633

1 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WDR47 was added gene: WDR47 was added to Intellectual disability. 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 neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: WDR47 was set to GREEN