Early onset or syndromic epilepsy

Gene: WDR47

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Mar 2026, 3:39 p.m. | Last Modified: 11 Mar 2026, 3:39 p.m.

Panel Version: 8.134

Comment on list classification: There is sufficient evidence available (five unrelated families) for the promotion of this gene to green rating on the next GMS update.

Created: 1 Feb 2025, 7:54 p.m. | Last Modified: 1 Feb 2025, 7:54 p.m.

Panel Version: 7.23

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, 7:52 p.m. | Last Modified: 1 Feb 2025, 7:52 p.m.

Panel Version: 7.22

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. Seizures were present in all 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, 7:39 p.m. | Last Modified: 1 Feb 2025, 7:53 p.m.

Panel Version: 7.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027

Publications

• 39609633