| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.7 | ACSF3 | Zornitza Stark Marked gene: ACSF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.7 | ACSF3 | Zornitza Stark Gene: acsf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.7 | ACSF3 | Zornitza Stark Classified gene: ACSF3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.7 | ACSF3 | Zornitza Stark Gene: acsf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.6 | ACSF3 |
Sangavi Sivagnanasundram gene: ACSF3 was added gene: ACSF3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 21785126, 26915364, 30740739, 26827111, 27604308, 21841779 Phenotypes for gene: ACSF3 were set to combined malonic and methylmalonic acidemia MONDO:0013661 Review for gene: ACSF3 was set to GREEN Added comment: Established gene disease association with reported individuals showing evidence of biochemical abnormalities however some individuals do not show any other phenotypic abnormalities. LoF is the mechanism of disease. Definitive classification by ClinGen Aminoacidopathy GCEP on 09/10/2020 - https://search.clinicalgenome.org/CCID:004033 Sources: ClinGen |
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