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| Krabbe disease - GALC deficiency v1.2 | GALC | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #245200) and the OMIM record was last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Krabbe disease - GALC deficiency v1.2 | GALC | Achchuthan Shanmugasundram Phenotypes for gene: GALC were changed from to Krabbe disease, OMIM:245200; Krabbe disease, MONDO:0009499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Krabbe disease - GALC deficiency v0.1 | GALC | Achchuthan Shanmugasundram reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Krabbe disease - GALC deficiency v0.1 | GALC |
Achchuthan Shanmugasundram gene: GALC was added gene: GALC was added to Krabbe disease - GALC deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal |
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| Krabbe disease - GALC deficiency v0.0 |
Achchuthan Shanmugasundram Added Panel Krabbe disease - GALC deficiency Set list of related panels to R280 Set panel types to: GMS Rare Disease |
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