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| Mendeliome v2.353 | PCDHGB1 | Zornitza Stark Marked gene: PCDHGB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.353 | PCDHGB1 | Zornitza Stark Gene: pcdhgb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.353 | PCDHGB1 | Zornitza Stark commented on gene: PCDHGB1: Over 50 individuals reported as part of a cohort study. However, only 6 of the variants are absent from gnomAD. Others are present at low frequencies and are over-represented in the dystonia cohort. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.353 | Zornitza Stark Copied gene PCDHGB1 from panel Dystonia and Chorea | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.353 | PCDHGB1 |
Zornitza Stark gene: PCDHGB1 was added gene: PCDHGB1 was added to Mendeliome. Sources: Expert Review Green,Literature Mode of inheritance for gene: PCDHGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCDHGB1 were set to 42482420; 35229923 Phenotypes for gene: PCDHGB1 were set to Inherited dystonia, MONDO:0044807, PCDHGB1-related Penetrance for gene: PCDHGB1 were set to unknown |
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