| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.51 | CTNNB1 | Bryony Thompson Marked gene: CTNNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.51 | CTNNB1 | Bryony Thompson Gene: ctnnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.51 | CTNNB1 | Bryony Thompson Classified gene: CTNNB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.51 | CTNNB1 | Bryony Thompson Gene: ctnnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.50 | CTNNB1 |
Bryony Thompson gene: CTNNB1 was added gene: CTNNB1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTNNB1 were set to 40771987; 40322871; 37455656; 36419413; 36083290; 33350591 Phenotypes for gene: CTNNB1 were set to CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, MONDO:0100571; Neurodevelopmental disorder, MONDO:0700092 Review for gene: CTNNB1 was set to GREEN Added comment: CTNNB1 encodes β‑catenin, a key Wnt‑signalling protein. Heterozygous loss‑of‑function variants cause a neurodevelopmental disorder with spastic diplegia, visual defects and variable additional features (CTNNB1‑related neurodevelopmental disorder and/or vitreoretinopathy). Sources: Literature |
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