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| Krabbe disease - Saposin A deficiency v1.2 | PSAP | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #611721 & #611722) and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Krabbe disease - Saposin A deficiency v1.2 | PSAP | Achchuthan Shanmugasundram Phenotypes for gene: PSAP were changed from to Combined SAP deficiency, OMIM:611721; Krabbe disease, atypical, OMIM:611722; PSAP-related sphingolipidosis, MONDO:0100517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Krabbe disease - Saposin A deficiency v0.1 | PSAP | Achchuthan Shanmugasundram reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Krabbe disease - Saposin A deficiency v0.1 | PSAP |
Achchuthan Shanmugasundram gene: PSAP was added gene: PSAP was added to Krabbe disease - Saposin A deficiency. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal |
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