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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.
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
Fabry disease v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
Fabry disease v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Fabry disease v0.3 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Fabry disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
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)
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)
Fabry disease v0.0 Achchuthan Shanmugasundram Added Panel Fabry disease
Set list of related panels to R335
Set panel types to: GMS Rare Disease