Pain syndromes
Gene: GLA
GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment from expert (Dave Bennett): Other features such as renal disease/CVA not always present especially in women and can present as a familial small fibre neuropathyCreated: 19 Sep 2017, 10:10 a.m.
Comment when marking as ready: Marked as green following Dave Bennett's commentsCreated: 19 Sep 2017, 10:04 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
Fabry disease 301500
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
- Expert list
- Phenotypes
-
- Fabry disease, 301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- Complete
- Panels with this gene
-
- Cystic kidney disease
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Lysosomal storage disorder
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Leukodystrophy, adult onset
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Hypertrophic cardiomyopathy
- Paroxysmal central nervous system disorders
- Proteinuric renal disease
- Progressive cardiac conduction disease
- Unexplained kidney failure in young people
- Hereditary neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Pain syndromes
- Fabry disease
- Multiple monogenic benign skin tumours
- Hereditary neuropathy or pain disorder
- Familial cerebral small vessel disease
History Filter Activity
19 Sep 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
19 Sep 2017, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GLA were set to Fabry disease, 301500
19 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Sep 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)GLA was created by arianna
19 Sep 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)GLA was added to Pain syndromespanel. Sources: Expert list