Genomics England
GMS Panels
Panels
Genes and Entities

CLDN1

claudin 1
OMIM: 603718
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
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
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626