Childhood onset hereditary spastic paraplegia
Gene: RAB3GAP2
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
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
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
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
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.
Tag Q1_23_promote_green was removed from gene: RAB3GAP2.
Source Expert Review Green was added to RAB3GAP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: RAB3GAP2 were set to 24482476
Tag Q1_23_promote_green tag was added to gene: RAB3GAP2.
Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome 1, OMIM:212720 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720
Source NHS GMS was added to RAB3GAP2.
Source Yorkshire and North East GLH was added to RAB3GAP2.
Added phenotypes spastic paraplegia for gene: RAB3GAP2
Rebecca Foulger: Comment on list classification
Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Gene: rab3gap2 has been classified as Red List (Low Evidence).
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