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Mendeliome v1.2632 WSB2 Krithika Murali Marked gene: WSB2 as ready
Mendeliome v1.2632 WSB2 Krithika Murali Gene: wsb2 has been classified as Green List (High Evidence).
Mendeliome v1.2632 WSB2 Krithika Murali Classified gene: WSB2 as Green List (high evidence)
Mendeliome v1.2632 WSB2 Krithika Murali Gene: wsb2 has been classified as Green List (High Evidence).
Mendeliome v1.2631 WSB2 Krithika Murali gene: WSB2 was added
gene: WSB2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WSB2 were set to PMID:40374945
Phenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related
Review for gene: WSB2 was set to GREEN
Added comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:
- Dev delay (all)
- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)
- Dysmorphic feature
- IUGR/oligohydramnios (3/5)
- Hypotonia (all)
- Microcephaly (3/5)
- Seizures (3/5)

Includes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.

Supportive mouse model.
Sources: Literature