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Date	Panel	Item	Activity
Filter activities 4 actions
17 Dec 2025	Fabry disease v1.2	GLA	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #301500) and the OMIM record was last accessed on 17 December 2025.
17 Dec 2025	Fabry disease v1.2	GLA	Achchuthan Shanmugasundram Phenotypes for gene: GLA were changed from to Fabry disease, OMIM:301500; Fabry disease, cardiac variant, OMIM:301500; Fabry disease, MONDO:0010526
30 Jun 2023	Fabry disease v0.1	GLA	Achchuthan Shanmugasundram reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
29 Jun 2023	Fabry disease v0.1	GLA	Achchuthan Shanmugasundram gene: GLA was added gene: GLA was added to Fabry disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)