Hereditary spastic paraplegia - adult onset

Gene: RAB3GAP2

Red List (low evidence)

RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 14 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Single family, childhood onset. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 1:06 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

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

Described as a candidate HSP gene: Novarino (2014, 24482476) single account. Diagnostic on Sheffield HSP panel.
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic paraplegia; Warburg micro syndrome 2, 614225

Publications

History Filter Activity

13 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RAB3GAP2.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to RAB3GAP2.

27 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes spastic paraplegia; Warburg micro syndrome 2, 614225 for gene: RAB3GAP2 Publications for gene RAB3GAP2 were changed from to 24482476

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: RAB3GAP2 was set to