Hereditary neuropathy
Gene: CLTCL1
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.
PMID:26068709 - mutation segregated with pain disorder in three affected siblings homozygous for the mutation, the parents both heterozygous and the one unaffected sibling available for analysis, also heterozygous. However on gnomAD frequency is 0.04% 132/280606 alleles (no homs)Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Single family but good functional dataCreated: 9 Dec 2015, 8:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Single family but good functional dataCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene CLTCL1 were changed from to 26068709
Source NHS GMS was added to CLTCL1.
Source South West GLH was added to CLTCL1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CLTCL1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
CLTCL1 was created by MReilly-925