Familial pulmonary fibrosis
Gene: GBAEnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.Created: 30 Jun 2022, 3:17 p.m. | Last Modified: 30 Jun 2022, 4:13 p.m.
Panel Version: 1.29
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:16 p.m.
Philip Molyneaux (Imperial College)
Gaucher disease with associated Pulmonary FibrosisCreated: 26 Apr 2017, 9:21 a.m.
Alice Gardham (Genomics England)
Interstitial lung disease is found in Gaucher syndromeCreated: 9 Feb 2017, 2:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, type I 230800
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Gaucher disease, type I, 230800
- Gaucher disease with associated Pulmonary Fibrosis
- 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 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GBA were set to Gaucher disease, type I, 230800; Gaucher disease with associated Pulmonary Fibrosis
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)GBA was created by agardham
Added New Source
Alice Gardham (Genomics England)GBA was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN