Pain syndromes

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

2 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Only one family described to date
Created: 18 Jul 2017, 8:39 a.m.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

1 case - possible association between variation in the CLTCL1 gene and congenital inability to feel pain and mental retardation (PMID: 26068709). 3 sibs from consanguineous parents. c.988G-A transition in exon 7 of the CLTCL1 gene, resulting in a glu330-to-lys (E330K) substitution at a conserved residue at the C terminus of the 7-bladed WD repeat-containing beta-propeller that forms the adaptor binding domain of the clathrin heavy chains. var currently classed as VUS until further confirmation (OMIN)
Created: 9 Jul 2017, 4:30 p.m.

Mode of inheritance
Unknown

Phenotypes
Congenital insensitivity to pain

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Review
  • Literaure
Phenotypes
  • Congenital insensitivity to pain
OMIM
601273
Clinvar variants
Variants in CLTCL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 0

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

9 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CLTCL1 was created by LouiseD

9 Jul 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

CLTCL1 was added to Pain syndromespanel. Sources: Literaure,Review