Adult onset hereditary spastic paraplegia
Gene: RAB3GAP2
Comment on list classification: This gene is rated AMBER as all the cases are of childhood-onset.Created: 15 Mar 2023, 10:31 a.m. | Last Modified: 15 Mar 2023, 10:31 a.m.
Panel Version: 2.21
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, 6:13 a.m. | Last Modified: 15 Mar 2023, 6:13 a.m.
Panel Version: 2.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Publications
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
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
Described as a candidate HSP gene: Novarino (2014, 24482476) single account. Diagnostic on Sheffield HSP panel.Created: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spastic paraplegia; Warburg micro syndrome 2, 614225
Publications
Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green was removed from gene: RAB3GAP2.
Tag Q1_23_promote_green tag was added to gene: RAB3GAP2.
Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, OMIM:614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Publications for gene: RAB3GAP2 were set to 24482476
Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia; Warburg micro syndrome 2, 614225 to Warburg micro syndrome 2, OMIM:614225
Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to RAB3GAP2.
Source Yorkshire and North East GLH was added to RAB3GAP2.
Added phenotypes spastic paraplegia; Warburg micro syndrome 2, 614225 for gene: RAB3GAP2 Publications for gene RAB3GAP2 were changed from to 24482476
gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: RAB3GAP2 was set to