Adult onset hereditary spastic paraplegia
Gene: GBA2EnsemblGeneIds (GRCh38): ENSG00000070610
EnsemblGeneIds (GRCh37): ENSG00000070610
OMIM: 609471, Gene2Phenotype
GBA2 is in 13 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Victoria: early onset of progressive spastic paraparesis, cerebellar ataxia, mental impairment, cataracts, cerebral, cerebellar and corpus callosum atrophy, and infertility in males. Several unrelated families published with mutation. In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 46, autosomal recessive, 614409
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 46, autosomal recessive, 614409
- OMIM
- 609471
- Clinvar variants
- Variants in GBA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- DDG2P
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: GBA2 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to GBA2.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to GBA2. Mode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GBA2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GBA2 was added gene: GBA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: GBA2 was set to