CLDN1

claudin 1
OMIM: 603718, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red CLDN1 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	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 1.26	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 Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Red CLDN1 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 scarring alopecia
Green CLDN1 in Cholestasis Version 3.4 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
Green CLDN1 in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Neonatal ichthyosis-sclerosing cholangitis syndrome Tags Q1_24_demote_red Q1_24_expert_review
Green CLDN1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626