Severe microcephaly

Gene: WDR47

I don't know

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, 8:02 p.m. | Last Modified: 1 Feb 2025, 8:02 p.m.

Panel Version: 7.10

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. Microcephaly was found in all cases, but it was only severe (beyond 3 SD) in two unrelated cases. Hence, this gene can only be rated amber with current evidence on this panel.

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, 8 p.m.

Panel Version: 7.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149

Publications

• 39609633