Pain syndromes
Gene: CLTCL1
CLTCL1 (clathrin heavy chain like 1)
EnsemblGeneIds (GRCh38): ENSG00000070371
EnsemblGeneIds (GRCh37): ENSG00000070371
OMIM: 601273, Gene2Phenotype
CLTCL1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000070371
EnsemblGeneIds (GRCh37): ENSG00000070371
OMIM: 601273, Gene2Phenotype
CLTCL1 is in 4 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Only one family described to dateCreated: 18 Jul 2017, 8:39 a.m.
Louise Daugherty (Genomics England Curator)
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