Adult onset hereditary spastic paraplegia

Gene: RAB3GAP2

Green List (high evidence)

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

• 32740904

Red List (low evidence)

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

• 24482476

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Red List (low evidence)

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

• 24482476