Familial cicatricial alopecia
Gene: CLDN1EnsemblGeneIds (GRCh38): ENSG00000163347
EnsemblGeneIds (GRCh37): ENSG00000163347
OMIM: 603718, Gene2Phenotype
CLDN1 is in 6 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Kept rating as Red: 'Cicatricial frontoparietal alopecia' listed in the OMIM clinical synopsis for ILVASC (MIM:607626) but no further evidence for the role of CLDN1 in scarring alopecia.Created: 13 Jul 2017, 2:42 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Other
- Phenotypes
-
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
- scarring alopecia
- OMIM
- 603718
- Clinvar variants
- Variants in CLDN1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)CLDN1 was added to Familial cicatricial alopeciapanel. Source: Radboud University Medical Center, Nijmegen
Created
Rebecca Foulger (Genomics England curator)CLDN1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)CLDN1 was added to Familial cicatricial alopeciapanel. Sources: Other