Hereditary spastic paraplegia
Gene: RAB3GAP2Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.Created: 28 Jan 2019, 12:41 p.m.
Comment on list classification: Added to panel and rated Red by Chris Buxton (Bristol NHS). Kept rating as Red based on expert review and limited cases, as reviewed by Chris Buxton. OMIM lists progressive spastic diplegia to quadriplegia as a clinical symptom of Warburg micro syndrome 2, 614225.Created: 8 Jan 2019, 4:08 p.m.
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 2:12 p.m.
Described as a candidate HSP gene: Novarino (2014, 24482476)
single account. Diagnostic on Sheffield HSP panel.
Sources: LiteratureCreated: 28 Nov 2018, 9:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spastic paraplegia
Publications
Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia; Warburg micro syndrome 2, 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to spastic paraplegia; Warburg micro syndrome 2, 614225
Gene: rab3gap2 has been classified as Red List (Low Evidence).
Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Publications for gene: RAB3GAP2 were set to 24482476; 29300443
Publications for gene: RAB3GAP2 were set to 24482476
Gene: rab3gap2 has been classified as Red List (Low Evidence).
gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary spastic paraplegia. Sources: 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 Penetrance for gene: RAB3GAP2 were set to unknown Review for gene: RAB3GAP2 was set to RED