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| Aminoacidopathy v1.48 | GCDH | Zornitza Stark Marked gene: GCDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.48 | GCDH | Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.48 | GCDH | Zornitza Stark Classified gene: GCDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.48 | GCDH | Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GCDH | Sangavi Sivagnanasundram edited their review of gene: GCDH: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GCDH |
Sangavi Sivagnanasundram gene: GCDH was added gene: GCDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 31536184, 7795610, 27476540, 31062211 Phenotypes for gene: GCDH were set to glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:004934 Well established gene-disease association. Affected individuals present with abnormal glutaric acid, 3-hydroxy-glutaric acid, glutaconic acid and glutarylcarnitine. c.91+5G>T has been reported to segregate closely within closely related Native American kindreds. Sources: ClinGen |
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