Mucopolysaccharideosis, Gaucher, Fabry
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Green gene with a green review, and verified on OMIM for disease association and mode of inheritance.Created: 29 Feb 2016, 5:55 p.m.
Helen Savage (Congenica Ltd)
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
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fabry disease, 301500
- Fabry disease, cardiac variant, 301500
- Fabry Disease
- 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
- Paediatric or syndromic cardiomyopathy
- 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
- Fetal anomalies
- Familial cerebral small vessel disease
- Hereditary neuropathy
- Lysosomal storage disorder
- Fabry disease
- Cystic kidney disease
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene GLA was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Eik Haraldsdottir (Genomics England)GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen