Congenital adrenal hypoplasia
Gene: MCM4Comment 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.
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.
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
06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for MCM4 were set to 22354167; 22354170
Phenotypes for MCM4 were set to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia;autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency
Publications for MCM4 were set to 22354167
This gene has been classified as Amber List (Moderate Evidence).
MCM4 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list