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Hereditary neuropathy NOT PMP22 copy number

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
  • South West GLH
  • Expert Review Red
  • Expert Review
  • NHS GMS
  • NHS GMS
  • South West GLH
OMIM
601273
Clinvar variants
Variants in CLTCL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: CLTCL1 was added gene: CLTCL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLTCL1 were set to 26068709