| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.50 | GCSH | Zornitza Stark Marked gene: GCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.50 | GCSH | Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.50 | GCSH | Zornitza Stark Classified gene: GCSH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.50 | GCSH | Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GCSH |
Sangavi Sivagnanasundram gene: GCSH was added gene: GCSH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 33890291; 36190515; 33569080 Phenotypes for gene: GCSH were set to glycine encephalopathy MONDO:0011612 Review for gene: GCSH was set to GREEN Added comment: Classified Strong by ClinGen Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:004937 Reported in 7 individuals with abnormal biochemical metabolism. Sources: ClinGen |
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