| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.549 | CLPB | Zornitza Stark Marked gene: CLPB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.549 | CLPB | Zornitza Stark Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.549 | CLPB | Zornitza Stark Classified gene: CLPB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.549 | CLPB | Zornitza Stark Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.548 | CLPB |
Zornitza Stark gene: CLPB was added gene: CLPB was added to Cataract. Sources: Literature Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 37548286; 36074910; 28687938; 25597510 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271 Review for gene: CLPB was set to GREEN Added comment: PMIDs 25595726, 25597510, 25597511, 28687938, 36074910 and 37548286 collectively report 35 individuals from 21 unrelated families with biallelic loss‑of‑function CLPB variants presenting with congenital cataracts, neutropenia, 3‑methylglutaconic aciduria and multisystem neurodevelopmental impairment. Sources: Literature |
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