MCM4

minichromosome maintenance complex component 4
OMIM: 602638, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber MCM4 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Immunodeficiency 54 MIM# 609981 Decreased NK cell number and function Viral infections (EBV, HSV, VZV) Short stature B cell lymphoma Adrenal failure Failure to thrive Microcephaly Increased chromosomal breakage Hyperpigmentation Lymphadenopathy Tags founder
Amber MCM4 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 54 MIM# 609981 Decreased NK cell number and function Viral infections (EBV, HSV, VZV) Short stature B cell lymphoma Adrenal failure Failure to thrive Microcephaly Increased chromosomal breakage Hyperpigmentation Lymphadenopathy Tags founder
Red MCM4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Immunodeficiency 54 OMIM #609981
Green MCM4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
Red MCM4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Immunodeficiency 54, MIM# 609981