Muscular dystrophy and myopathy_Paediatric
Gene: WSB2
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: LiteratureCreated: 6 Jun 2025, 2:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related
Publications
Gene: wsb2 has been classified as Green List (High Evidence).
Gene: wsb2 has been classified as Red List (Low Evidence).
gene: WSB2 was added gene: WSB2 was added to Muscular dystrophy and myopathy_Paediatric. 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