Hereditary neuropathy

Gene: CCT5

Red List (low evidence)

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

• 16399879

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Red List (low evidence)

One family

Created: 29 Apr 2019, 9:20 a.m.

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Red List (low evidence)

HSP and HSN, single family

Created: 9 Dec 2015, 8:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Red List (low evidence)

HSP and HSN, single family

Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal