Childhood onset hereditary spastic paraplegia
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 15 panels
5 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:14 p.m. | Last Modified: 10 Oct 2023, 5:18 p.m.
Panel Version: 4.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence (>3 unrelated cases) available for this gene to be considered for a green rating in the next major review.Created: 15 Mar 2023, 6:06 a.m. | Last Modified: 15 Mar 2023, 6:06 a.m.
Panel Version: 3.22
PMID:32740904 reported 9 cases identified with biallelic variants in RAB3GAP2 gene. Seven of them were diagnosed with Martsolf syndrome 1 (MIM #212720) and the remaining two with Warburg micro syndrome 2 (MIM #614225). All of them presented with spasticity (either paraparesis or quadriparesis) as one of the clinical manifestations. The age of patients ranged from 1 year 4 months to 14 years old, with six of them under 10 years old.
This gene has been associated with phenotypes in both OMIM and Gene2Phenotype.Created: 15 Mar 2023, 6:03 a.m. | Last Modified: 15 Mar 2023, 6:13 a.m.
Panel Version: 3.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Publications
Zornitza Stark (Australian Genomics)
Syndromic cause of spasticity. PMID: 32376645 - 1 patient with bilateral clinodactyly and syndactyly, normal MRI and learning difficulties. Review of previous reports notes 9 additional patients (4 families) with Marsolf syndrome, with postnatal microcephaly (5/9), congenital cataracts (7/9), limb spasticity (7/9) and optic nerve atrophy (2/9).Created: 19 Sep 2020, 8:53 a.m. | Last Modified: 19 Sep 2020, 8:53 a.m.
Panel Version: 2.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome, MIM# 212720
Publications
Variants in this GENE are reported as part of current diagnostic practice
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Literature
- Phenotypes
-
- Martsolf syndrome 1, OMIM:212720
- Warburg micro syndrome 2, OMIM:614225
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset hereditary spastic paraplegia
- Anophthalmia or microphthalmia
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: RAB3GAP2.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to RAB3GAP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: RAB3GAP2 were set to 24482476
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: RAB3GAP2.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome 1, OMIM:212720 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RAB3GAP2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to RAB3GAP2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes spastic paraplegia for gene: RAB3GAP2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
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
Entity classified by Genomics England curator
Rebecca Foulger (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
Sarah Leigh (Genomics England Curator)gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,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