This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
Gene: GLB1
GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- OMIM
- 611458
- Clinvar variants
- Variants in GLB1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Skeletal dysplasia
- Fetal hydrops
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
History Filter Activity
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: GLB1 was added gene: GLB1 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal