Adult onset neurodegenerative disorder
Gene: GLA
The rating of this gene has been updated to Green and the mode of inheritance set to 'X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:22 p.m. | Last Modified: 1 Feb 2023, 12:22 p.m.
Panel Version: 3.49
Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotype and with and adult onset.
GLA has also been associated with relevant phenotypes in both OMIM and G2P.Created: 4 Jan 2023, 9:52 p.m. | Last Modified: 4 Jan 2023, 9:52 p.m.
Panel Version: 3.16
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, OMIM:301500
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: X-linked . Phenotype: Fabry disease. Evidence: MIM: 301500Created: 22 Dec 2022, 12:10 p.m. | Last Modified: 22 Dec 2022, 12:10 p.m.
Panel Version: 3.4
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease
Tag Q1_23_promote_green was removed from gene: GLA.
Source NHS GMS was added to GLA. Source Expert Review Green was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: GLA.
Phenotypes for gene: GLA were changed from to Fabry disease, OMIM:301500
Mode of inheritance for gene: GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene: gla has been classified as Amber List (Moderate Evidence).
gene: GLA was added gene: GLA was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GLA was set to