Cardiomyopathy_Paediatric
Gene: GLB1
GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- MetBioNet
- South West GLH
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis Type IVB
- MUCOPOLYSACCHARIDOSIS TYPE 4B
- MPS IVB, Morquio B disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis, Type IV
- GM1-gangliosidosis, type III, 230650
- GM1-gangliosidosis (Sphingolipidoses)
- GM1-gangliosidosis, type II, 230600
- syndromic HCM
- GM1-gangliosidosis, type I, 230500
- Mucopolysaccharidosis type IVB (Morquio), 253010
- OMIM
- 611458
- Clinvar variants
- Variants in GLB1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLB1 was added gene: GLB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 27604308 Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis, Type IV; GM1-gangliosidosis, type III, 230650; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; syndromic HCM; GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010