Cerebral vascular malformations
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
Alice Gardham (Genomics England)
Small vessel cerebrovascular disease rather than cerebrovascular malformationCreated: 12 Dec 2016, 3:39 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Expert list
- Phenotypes
-
- Moyamoya disease
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- Complete
- 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
- Hereditary neuropathy or pain disorder
- 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
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Fabry disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to GLA.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GLA.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
12 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
2 Nov 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GLA was added to Cerebrovascular disorderspanel. Sources: Expert list
2 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GLA was created by ellenmcdonagh