| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in CholestasisR-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 erythrokeratodermaR-numbers: R165 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626 |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neonatal ichthyosis-sclerosing cholangitis syndrome |