CLDN1

claudin 1
OMIM: 603718, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red CLDN1 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.6

review 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
Green CLDN1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626
  • ichthyosis-hypotrichosis-sclerosing cholangitis
  • NISCH syndrome
  • Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
Green CLDN1 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Red CLDN1 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
  • scarring alopecia
Green CLDN1 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • ichthyosis-hypotrichosis-sclerosing cholangitis
  • Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626
  • Neonatal and Adult Cholestasis
  • NISCH syndrome
  • Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
Red CLDN1 in Palmoplantar keratodermas


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Neonatal ichthyosis-sclerosing cholangitis syndrome