Fetal hydrops
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
1 review
Rebecca Foulger (Genomics England curator)
Added to panel because of link between some lysosomal storage disorders and non-immune fetal hydrops (NIHF). GLA is also on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdfCreated: 21 Dec 2016, 11:37 a.m.
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
- 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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Created
Rebecca Foulger (Genomics England curator)GLA was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)GLA was added to Fetal hydropspanel. Sources: Expert Review Green