Adult onset hereditary spastic paraplegia
Gene: CCT5
Childhood onset. Single family. Single mutations reported. Further evidence published suggesting benign.Created: 10 May 2019, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
single family. Bouhouche 2006Created: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia
Mode of inheritance for gene: CCT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to
Source NHS GMS was added to CCT5.
Source Yorkshire and North East GLH was added to CCT5.
Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5
gene: CCT5 was added gene: CCT5 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: CCT5 was set to