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Prepair 1000+

Gene: MCM4

Red List (low evidence)

MCM4 (minichromosome maintenance complex component 4)
EnsemblGeneIds (GRCh38): ENSG00000104738
EnsemblGeneIds (GRCh37): ENSG00000104738
OMIM: 602638, Gene2Phenotype
MCM4 is in 5 panels

3 reviews

Kate Scarff (Victorian Clinical Genetics Services)

I don't know

A primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect.
More than 20 individuals, within Irish Traveller community; (Founder effect in Irish Traveller population demonstrated) Same biallelic variant found c.71-1insG resulting in a severely truncated protein (p.Pro24ArgfsX4). Majority of the affected individuals displayed NK cell deficiency, adrenal insufficiency, recurrent respiratory/ viral infections and short stature.
Red in previous P1000+ reviews due to only one founder variant identified.
No other literature on patients with variants in MCM4 found (March 2025).
Created: 5 Mar 2025, 5:46 a.m. | Last Modified: 5 Mar 2025, 5:46 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 54, MIM #609981

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Founder variant, insufficient evidence for gene-disease association to merit inclusion in a screening panel.
Created: 22 Jun 2022, 2:51 a.m. | Last Modified: 22 Jun 2022, 2:51 a.m.
Panel Version: 0.13

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Amber in Mendeliome. Insufficient evidence for inclusion

Single variant reported to date.

More than 20 individuals, within Irish Traveller community reported with a single homozygous variant, founder effect demonstrated (c.71-1insG resulting in a severely truncated protein (p.Pro24ArgfsX4)).
Created: 8 Jun 2022, 12:12 a.m. | Last Modified: 8 Jun 2022, 12:12 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 54, MIM# 609981

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 54, MIM# 609981
OMIM
602638
Clinvar variants
Variants in MCM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm4 has been classified as Red List (Low Evidence).

22 Jun 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM4 were changed from Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3) to Immunodeficiency 54, MIM# 609981

22 Jun 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCM4 were set to

22 Jun 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm4 has been classified as Red List (Low Evidence).

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCM4 was added gene: MCM4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)