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| Phenylketonuria v1.2 | PAH | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #261600) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phenylketonuria v1.2 | PAH | Achchuthan Shanmugasundram Phenotypes for gene: PAH were changed from to Phenylketonuria, OMIM:261600; phenylketonuria, MONDO:0009861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phenylketonuria v0.1 | PAH | Achchuthan Shanmugasundram reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phenylketonuria v0.1 | PAH |
Achchuthan Shanmugasundram gene: PAH was added gene: PAH was added to Phenylketonuria. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal |
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