Genes in panel

Hereditary neuropathy

Gene: CLTCL1

Red List (low evidence)

CLTCL1 (clathrin heavy chain like 1)
EnsemblGeneIds (GRCh38): ENSG00000070371
EnsemblGeneIds (GRCh37): ENSG00000070371
OMIM: 601273, Gene2Phenotype
CLTCL1 is in 5 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

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

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Single family but good functional data
Created: 9 Dec 2015, 8:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Single family but good functional data
Created: 8 Dec 2015, 3:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
OMIM
601273
Clinvar variants
Variants in CLTCL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CLTCL1 were changed from to 26068709

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CLTCL1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to CLTCL1.

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

CLTCL1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

CLTCL1 was created by MReilly-925