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| Aminoacidopathy v1.43 | DNAJC12 | Zornitza Stark Marked gene: DNAJC12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.43 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.43 | DNAJC12 | Zornitza Stark Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.42 | DNAJC12 | Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.42 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | DNAJC12 |
Sangavi Sivagnanasundram gene: DNAJC12 was added gene: DNAJC12 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987 Phenotypes for gene: DNAJC12 were set to hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 Review for gene: DNAJC12 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/01/2021 - https://search.clinicalgenome.org/CCID:004679 Biochemical abnormalities have been reported in at least 7 probands. Sources: ClinGen |
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