MCM5:Ensemblv90

minichromosome maintenance complex component 5
OMIM: 602696, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red MCM5 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Meier-Gorlin syndrome 8 (MIM#617564)

Red MCM5 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Meier-Gorlin syndrome 8 (MIM#617564)

Red MCM5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meier-Gorlin syndrome 8, MIM# 617564

Red MCM5 in Growth failure


Version 1.87

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Meier-Gorlin syndrome 8 (MIM#617564)

Red MCM5 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 8 (MIM#617564)

Red MCM5 in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 8 (MIM#617564)