Disorders of sex development

Gene: MCM5

Red List (low evidence)

MCM5 (minichromosome maintenance complex component 5)
EnsemblGeneIds (GRCh38): ENSG00000100297
EnsemblGeneIds (GRCh37): ENSG00000100297
OMIM: 602696, Gene2Phenotype
MCM5 is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
?Meier-Gorlin syndrome 8 617564

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meier-Gorlin syndrome 8 617564
OMIM
602696
Clinvar variants
Variants in MCM5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

MCM5 was added to Disorders of sex developmentpanel. Sources: Literature

17 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MCM5 was created by sleigh