| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.597 | TRAPPC11 | Zornitza Stark Marked gene: TRAPPC11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.597 | TRAPPC11 | Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.597 | TRAPPC11 | Zornitza Stark Classified gene: TRAPPC11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.597 | TRAPPC11 | Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.596 | TRAPPC11 |
Zornitza Stark gene: TRAPPC11 was added gene: TRAPPC11 was added to Cataract. Sources: Literature Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 34648194; 26322222 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356 Review for gene: TRAPPC11 was set to GREEN Added comment: PMID 26322222 and PMID 34648194 together describe five individuals from five unrelated families with biallelic loss‑of‑function TRAPPC11 variants. The affected individuals present with congenital/early‑onset muscular dystrophy, infantile‑onset cataract, markedly elevated CK, and multisystem involvement (fatty liver in one family and severe α‑dystroglycan hypoglycosylation in muscle). Sources: Literature |
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