Adult onset neurodegenerative disorder
Gene: RAB3GAP2Comment 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.
Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.Created: 20 Dec 2018, 3:10 p.m.
Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Red by Chris Buxton.Created: 20 Dec 2018, 10:32 a.m.
Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720
Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Rebecca Foulger: Gene awaiting curator evaluati
Gene: rab3gap2 has been classified as Red List (Low Evidence).
Gene: rab3gap2 has been classified as Red List (Low Evidence).
Gene: rab3gap2 has been removed from the panel.
gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list 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