Haematological malignancies for rare disease
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
Sarah Leigh (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1..Created: 30 Jun 2022, 3:16 p.m. | Last Modified: 30 Jun 2022, 4:13 p.m.
Panel Version: 1.12
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: miscellaneous
- Gauchers type 1
- Myeloma Lymphoma Hepatocellular carcinoma
- Tags
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Haematological malignancies cancer susceptibility
- Cholestasis
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Familial pulmonary fibrosis
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Arthrogryposis
- Early onset or syndromic epilepsy
- Haematological malignancies for rare disease
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Intellectual disability
- Gaucher disease
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
History Filter Activity
30 Jun 2022, Gel status: 3
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: GBA.
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GBA was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)GBA was created by Ellen McDonagh