Pain syndromesGene: CLTCL1
Only one family described to date
Created: 18 Jul 2017, 8:39 a.m.
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
Congenital insensitivity to pain
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
CLTCL1 was created by LouiseD
CLTCL1 was added to Pain syndromespanel. Sources: Literaure,Review