Hereditary spastic paraplegia - childhood onset

Gene: GBA2

Green List (high evidence)

GBA2 (glucosylceramidase beta 2)
EnsemblGeneIds (GRCh38): ENSG00000070610
EnsemblGeneIds (GRCh37): ENSG00000070610
OMIM: 609471, Gene2Phenotype
GBA2 is in 13 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood and adult onset.
Created: 9 May 2019, 4:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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 panel
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 46, autosomal recessive, 614409

Arianna Tucci (Genomics England Curator)

Onset of SPG46 in childhood
Created: 14 Jan 2019, 4:52 p.m.

Details

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GBA2 were set to 23332916

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GBA2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GBA2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GBA2.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset of SPG46 in childhood

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive 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 Martin et al. (2013)

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: GBA2 was added gene: GBA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to Martin et al. (2013) Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive