Ataxia and cerebellar anomalies - narrow panel
Gene: GBA2
GBA2 (glucosylceramidase beta 2)
EnsemblGeneIds (GRCh38): ENSG00000070610
EnsemblGeneIds (GRCh37): ENSG00000070610
OMIM: 609471, Gene2Phenotype
GBA2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000070610
EnsemblGeneIds (GRCh37): ENSG00000070610
OMIM: 609471, Gene2Phenotype
GBA2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 46, autosomal recessive, 614409
- OMIM
- 609471
- Clinvar variants
- Variants in GBA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Fetal anomalies
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
9 Jan 2019, Gel status: 4
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: GBA2 were set to
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: GBA2 was added gene: GBA2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal