Arthrogryposis
Gene: GBAEnsemblGeneIds (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, 3:18 p.m. | Last Modified: 30 Jun 2022, 4:14 p.m.
Panel Version: 3.159
Alice Gardham (Genomics England)
Perinatal lethal Gaucher is associated with arthrogryposisCreated: 4 Jan 2017, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, perinatal lethal 608013
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Gaucher disease, perinatal lethal 608013
- Tags
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- Complete
- Publications
- 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
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: GBA.
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for GBA were set to Gaucher disease, perinatal lethal 608013
Set publications
Alice Gardham (Genomics England)Publications for GBA were set to 10649495
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for GBA was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Alice Gardham (Genomics England)GBA was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)GBA was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)GBA was created by ellenmcdonagh