Fetal hydrops
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, 3:17 p.m. | Last Modified: 30 Jun 2022, 4:13 p.m.
Panel Version: 1.55
Rebecca Foulger (Genomics England curator)
Added to panel because of link between some lysosomal storage disorders and non-immune fetal hydrops (NIHF). GBA is also on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdfCreated: 21 Dec 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Gaucher disease
- Gaucher disease, type I, 230800
- Gaucher disease, type II, 230900
- Gaucher disease, type III, 231000
- Gaucher disease, type IIIC, 231005
- Gaucher disease, perinatal lethal, 608013
- Tags
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Adult onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Haematological malignancies for rare disease
- Likely inborn error of metabolism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Gaucher disease
- Iron metabolism disorders - NOT common HFE mutations
- Arthrogryposis
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Fetal anomalies
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
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Created
Rebecca Foulger (Genomics England curator)GBA was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)GBA was added to Fetal hydropspanel. Sources: Expert Review Green