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| Mucopolysaccharidosis type IIIA v1.2 | SGSH | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #252900) and the OMIM record was last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucopolysaccharidosis type IIIA v1.2 | SGSH | Achchuthan Shanmugasundram Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), OMIM:252900; mucopolysaccharidosis type 3A, MONDO:0009655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucopolysaccharidosis type IIIA v0.2 | SGSH | Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucopolysaccharidosis type IIIA v0.1 | SGSH |
Achchuthan Shanmugasundram gene: SGSH was added gene: SGSH was added to Mucopolysaccharidosis type IIIA. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal |
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