This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
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
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: GLA; Inheritance: X-linked (Heterozygous in females, Hemizygous in males); Clinical diagnosis: Tubulointerstitial disease; Other; Genetic diagnosis: Fabry disease; OMIM phenotype MIM no.: 301500; Number of cases: 3Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
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 review green
- Literature
- Phenotypes
-
- Tubulointerstitial disease
- Other
- Fabry disease
- MIM 301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Adult onset leukodystrophy
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Paroxysmal central nervous system disorders
- Lysosomal storage disorder
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Unexplained kidney failure in young people
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Cystic kidney disease
- Pain syndromes
- Familial cerebral small vessel disease
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- Fabry disease
History Filter Activity
2 Jul 2019, Gel status: 3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to GLA. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GLA was added gene: GLA was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green 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 Tubulointerstitial disease; Other; Fabry disease; MIM 301500