Genes in panel

Neurodegenerative disorders - 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

1 review

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, 12:42 p.m.
Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Created: 8 Jan 2019, 4:10 p.m.
Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Created: 20 Dec 2018, 3:10 p.m.
Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Red by Chris Buxton.
Created: 20 Dec 2018, 10:32 a.m.

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

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

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).

20 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

18 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: rab3gap2 has been removed from the panel.

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list 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