| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aminoacidopathy v1.44 | FAH | Zornitza Stark Marked gene: FAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.44 | FAH | Zornitza Stark Gene: fah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.44 | FAH | Zornitza Stark Classified gene: FAH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.44 | FAH | Zornitza Stark Gene: fah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | FAH |
Sangavi Sivagnanasundram gene: FAH was added gene: FAH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 20301688; 8318997; 7550234; 7942842; 2378356; 9095403; 26829318 Phenotypes for gene: FAH were set to tyrosinemia type I MONDO:0010161 Review for gene: FAH was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004804 Typically present in young infants with abnormal liver function as FAH is mainly expressed in the liver. Well established gene-disease association with multiple reported individuals having abnormal biochemical function of FAH. LoF is the mechanism of disease. Gene Reviews reports many founder variants in different population. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||