Activity
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| Diagnostic testing for Glutaric acidaemia I v0.3 | GCDH | Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Glutaric acidaemia I v0.2 | GCDH |
Achchuthan Shanmugasundram Source Expert Review Green was added to GCDH. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Diagnostic testing for Glutaric acidaemia I v0.1 | GCDH |
Achchuthan Shanmugasundram gene: GCDH was added gene: GCDH was added to Diagnostic testing for Glutaric acidaemia I. Sources: NHS GMS Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, OMIM:231670 |
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