Lysosomal storage disorder
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
2 reviews
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Carol Hardy (West Midlands Regional Genetics Laboratory)
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
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
- Phenotypes
-
- Fabry disease OMIM:301500
- Fabry disease MONDO:0010526
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Likely inborn error of metabolism
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Adult onset neurodegenerative disorder
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Hereditary neuropathy
- Lysosomal storage disorder
- Fetal anomalies
- Fabry disease
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GLA were changed from Fabry disease 301500 to Fabry disease OMIM:301500; Fabry disease MONDO:0010526
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GLA was added gene: GLA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,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 Fabry disease 301500