Adult onset neurodegenerative disorder
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Achchuthan Shanmugasundram (Genomics England Curator)
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
Eleanor Williams (Genomics England Curator)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Fabry disease, OMIM:301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Fabry disease
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Childhood onset dystonia, chorea or related movement disorder
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Fetal hydrops
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Cystic kidney disease
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: GLA.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: GLA.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GLA were changed from to Fabry disease, OMIM:301500
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)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)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: gla has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)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