Hereditary neuropathy
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
6 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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)
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)
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
-
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Cystic kidney disease
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Familial cerebral small vessel disease
- Hereditary neuropathy
- Lysosomal storage disorder
- Fabry disease
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GLA.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to GLA. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GLA was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)GLA was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory