MCM4

minichromosome maintenance complex component 4
OMIM: 602638, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green MCM4 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Combined immunodeficiencies with associated or syndromic features Predisposition to several viral infection Immunodeficiency 54, 609981 MCM4 deficiency NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure Natural killer cell and glucocorticoid deficiency with DNA repair defect
Amber MCM4 in Congenital adrenal hypoplasia Level 3: Adrenal disorders Level 2: Endocrine disorders Version 3.11 Latest signed off version: v3.0 (30 Nov 2022)	review	Not set	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
Green MCM4 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Immunodeficiency 54, 609981 Natural killer cell and glucocorticoid deficiency with DNA repair defect Predisposition to several viral infection MCM4 deficiency NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure Combined immunodeficiencies with associated or syndromic features Tags founder-effect
Red MCM4 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green MCM4 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 54, 609981