Hyperammonaemia
Gene: GBA
GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 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
Glucocerbrosidase deficiency, Gaucher disease
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- Complete
- Panels with this gene
-
- Inherited bleeding disorders
- Neonatal cholestasis
- Bleeding and platelet disorders
- Arthrogryposis
- Intellectual disability
- Parkinson Disease and Complex Parkinsonism
- Lysosomal storage disorder
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Haematological malignancies cancer susceptibility
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, adult onset
- Cholestasis
- Familial pulmonary fibrosis
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Gaucher disease
- Fetal hydrops
- DDG2P
- Haematological malignancies for rare disease
- Iron metabolism disorders - NOT common HFE mutations
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
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)GBA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory