Hereditary spastic paraplegia
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 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)
Described as a candidate HSP gene: Novarino (2014, 24482476)
single account. Diagnostic on Sheffield HSP panel.
Sources: LiteratureCreated: 28 Nov 2018, 9:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spastic paraplegia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Martsolf syndrome 1, OMIM:212720
- Warburg micro syndrome 2, OMIM:614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Structural eye disease
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset hereditary spastic paraplegia
- Anophthalmia or microphthalmia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia; Warburg micro syndrome 2, 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
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
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to spastic paraplegia; Warburg micro syndrome 2, 614225
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 Amber List (Moderate Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: RAB3GAP2 were set to 24482476; 29300443
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: RAB3GAP2 were set to 24482476
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rab3gap2 has been classified as Red List (Low Evidence).
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