Hyperammonaemia
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Peter Clayton (UCL Institute of Child Health)
Infants presenting with fetal / neoatal ascites can have mildly elevated ammonia;hyperammonaemia is not the main presenting featureCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Beta-galactosidase deficiency, GM1 gangliosidosis
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 611458
- Clinvar variants
- Variants in GLB1
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Mucopolysaccharideosis, Gaucher, Fabry
- Likely inborn error of metabolism
- Hyperammonaemia
- Fetal hydrops
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)GLB1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory