Adult onset neurodegenerative disorder
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Martsolf syndrome 1, OMIM:212720
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Structural eye disease
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Skeletal dysplasia
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720
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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: rab3gap2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: rab3gap2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: rab3gap2 has been removed from the panel.
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