MCM7:Ensemblv90

minichromosome maintenance complex component 7
OMIM: 600592, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red MCM7 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MCM7-related
  • Meier-Gorlin syndrome
  • Microcephaly
  • Intellectual disability
  • Lipodystrophy
  • Adrenal insufficiency

Amber MCM7 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MCM7-related
  • Meier-Gorlin syndrome
  • Microcephaly
  • Intellectual disability
  • Lipodystrophy
  • Adrenal insufficiency

Amber MCM7 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MCM7-related
  • Meier-Gorlin syndrome
  • Microcephaly
  • Intellectual disability
  • Lipodystrophy
  • Adrenal insufficiency

Amber MCM7 in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MCM7-related
  • Meier-Gorlin syndrome
  • Microcephaly
  • Intellectual disability
  • Lipodystrophy
  • Adrenal insufficiency

Red MCM7 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Syndromic disease, MONDO:0002254, MCM7-related
  • Meier-Gorlin syndrome
  • Microcephaly
  • Intellectual disability
  • Lipodystrophy
  • Adrenal insufficiency