Hereditary spastic paraplegia - childhood onsetGene: RAB3GAP2
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
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.
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