Hereditary neuropathy or pain disorder
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
7 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
GLA variants have been associated with Fabry disease, OMIM:301500 and it is as definitive G2P gene for the same condition.
Over 60 GLA variants have been associated with OMIM:301500 and neurological features are an accepted aspect of this condition (PMID: 22428782).Created: 5 Nov 2024, 5:20 p.m. | Last Modified: 5 Nov 2024, 5:20 p.m.
Panel Version: 6.106
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Louise Daugherty (Genomics England Curator)
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 8:24 p.m. | Last Modified: 6 Dec 2019, 8:24 p.m.
Panel Version: 0.63
Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)Created: 6 Dec 2019, 8:21 p.m. | Last Modified: 6 Dec 2019, 8:21 p.m.
Panel Version: 0.60
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Richard Scott (Genomics England Curator)
Comment on list classification: Neuropathy is a featureCreated: 8 Jul 2016, 4:31 a.m.
Alexander Rossor (UCL Institute of Neurology)
small fibren europathy established feature of FabrysCreated: 20 Oct 2024, 9:59 a.m. | Last Modified: 20 Oct 2024, 9:59 a.m.
Panel Version: 5.19
Fabry's diseaseCreated: 9 Dec 2015, 8:49 a.m.
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
small fibre neuropathy; strokes; cardiomyopathy; skin disease
Publications
Mary Reilly (Institute of Neurology)
Fabry's diseaseCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
- London North GLH
- Emory Genetics Laboratory
- NHS GMS
- London North GLH
- Phenotypes
-
- Fabry disease, OMIM:301500
- Fabry disease, cardiac variant, OMIM:301500
- Fabry disease, MONDO:0010526
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Progressive cardiac conduction disease
- Cystic kidney disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Fabry disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: GLA. Tag Q3_24_NHS_review was removed from gene: GLA.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: GLA. Tag Q3_24_NHS_review tag was added to gene: GLA.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GLA were changed from Cardiomyopathy to Fabry disease, OMIM:301500; Fabry disease, cardiac variant, OMIM:301500; Fabry disease, MONDO:0010526
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GLA were set to
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: gla has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GLA was added gene: GLA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,London North GLH,Expert Review Green,NHS GMS 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) Phenotypes for gene: GLA were set to Cardiomyopathy