Disorders of sex developmentGene: MCM5
Associated with phenotype in OMIM, not in G2P. At least two variants reported as compound heterozygotes in one case (PMID 28198391), with Meier-Gorlin syndrome 8 (MIM 617564), including bilateral Cryptorchidism.
Created: 17 Aug 2017, 12:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Meier-Gorlin syndrome 8 617564
MCM5 was added to Disorders of sex developmentpanel. Sources: Literature
MCM5 was created by sleigh