Autosomal recessive congenital ichthyosisGene: SDR9C7
Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in three unrelated families with Autosomal Recessive Congenital Ichthyosis. Supporting functional studies also included in PMID 28173123
Created: 17 Aug 2017, 4:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis, congenital, autosomal recessive 13 617574
This gene has been classified as Green List (High Evidence).
SDR9C7 was added to Autosomal recessive congenital ichthyosispanel. Sources: Literature
SDR9C7 was created by sleigh