Ichthyosis and erythrokeratodermaGene: SULT2B1
Associated with phenotype in OMIM, not in G2P. At least 4 variants reported in three cases (2 different homozygous variants in 2 families) and 2 different variants as compound heterozygotes in one case.
Created: 17 Aug 2017, 3:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis, congenital, autosomal recessive 14 617571
gene: SULT2B1 was added gene: SULT2B1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SULT2B1 were set to 28575648 Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 617571