Hereditary neuropathy or pain disorder
Gene: CCT5
In Bristol C3s only. Not enough evidence to meet PanelApp criteria. One variant in HGMD with original report 16399879 - but later HGMD reports suggest the variant is likely benign. No other evidence on PubMed search.Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Sensory Neuropathy with Spastic Paraplegia ; Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
One familyCreated: 29 Apr 2019, 9:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of HSN.Created: 10 Jun 2016, 1:52 p.m.
Comment on list classification: Originally a green gene, but due to expert review was demoted to red.Created: 3 May 2016, 4:05 p.m.
HSP and HSN, single familyCreated: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
HSP and HSN, single familyCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: CCT5 was added gene: CCT5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT5 were set to 16399879 Phenotypes for gene: CCT5 were set to Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, 256840