Hereditary spastic paraplegia

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

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.
Created: 28 Jan 2019, 12:41 p.m.
Comment on list classification: Added to panel and rated Red by Chris Buxton (Bristol NHS). Kept rating as Red based on expert review and limited cases, as reviewed by Chris Buxton. OMIM lists progressive spastic diplegia to quadriplegia as a clinical symptom of Warburg micro syndrome 2, 614225.
Created: 8 Jan 2019, 4:08 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 2:12 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.
Sources: Literature
Created: 28 Nov 2018, 9:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic paraplegia

Publications

History Filter Activity

28 Jan 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to spastic paraplegia; Warburg micro syndrome 2, 614225

8 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: rab3gap2 has been classified as Red List (Low Evidence).

8 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).

8 Jan 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: RAB3GAP2 were set to 24482476; 29300443

8 Jan 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: RAB3GAP2 were set to 24482476

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rab3gap2 has been classified as Red List (Low Evidence).

28 Nov 2018, Gel status: 0

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

Chris Buxton (North Bristol NHS Trust)

gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB3GAP2 were set to 24482476 Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia Penetrance for gene: RAB3GAP2 were set to unknown Review for gene: RAB3GAP2 was set to RED