Congenital adrenal hypoplasia
Gene: MCM4

MCM4 (minichromosome maintenance complex component 4)
EnsemblGeneIds (GRCh38): ENSG00000104738
EnsemblGeneIds (GRCh37): ENSG00000104738
OMIM: 602638, Gene2Phenotype
MCM4 is in 3 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed internally with Clinical Geneticist and agreed this should remain amber due to the founder effect.
Created: 6 Feb 2017, 2:29 p.m.

Added gene tag to label with founder effect, as only one variant has been identified in one population.
Created: 2 Feb 2017, 2:12 p.m.

Created: 2 Feb 2017, 2:12 p.m.

Panel version: 0.45

Ellen Thomas (Genomics England Curator)

Comment on list classification: Only 1 mutation in 1 population (founder effect) - no other mutations reported. Can't rule out something else within the shared haplotype.
Created: 28 Jun 2016, 2:07 p.m.

Created: 28 Jun 2016, 2:07 p.m.

Panel version: 0.25

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Usually presents with cortisol insufficiency ("familial glucocorticoid deficiency") in childhood. Normally no salt loss. Associated with short stature and infections (natural killer cell deficiency). Mostly in individuals with Irish ancestry at present.
Created: 7 Dec 2015, 1:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Dec 2015, 1:51 p.m.

Panel version: 0

Details

Sources

Expert Review Amber
Expert list

Phenotypes

Ideopathic Primary Adrenal Failure
Congenital Adrenal Hypoplasia
autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency

Tags

founder-effect

OMIM

602638

Clinvar variants

Variants in MCM4

Penetrance

Complete

Publications

Panels with this gene