Pain syndromes
Gene: CLTCL1EnsemblGeneIds (GRCh38): ENSG00000070371
EnsemblGeneIds (GRCh37): ENSG00000070371
OMIM: 601273, Gene2Phenotype
CLTCL1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.
PMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system.Created: 26 Feb 2021, 3:40 a.m. | Last Modified: 26 Feb 2021, 3:40 a.m.
Panel Version: 0.10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pain insensitivity; intellectual disability
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Literaure
- Review
- Genomics England PanelApp
- Phenotypes
-
- Congenital insensitivity to pain
- OMIM
- 601273
- Clinvar variants
- Variants in CLTCL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: CLTCL1 were set to 26068709
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Added New Source, Added New Source, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Review was added to CLTCL1. Source Literaure was added to CLTCL1. Added phenotypes Congenital insensitivity to pain for gene: CLTCL1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLTCL1 was added gene: CLTCL1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CLTCL1 was set to Unknown Publications for gene: CLTCL1 were set to 26068709 Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain