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Gene: MCM4

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

2 reviews

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

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

Created: 8 Jun 2022, 12:12 a.m.
Last Modified: 8 Jun 2022, 12:12 a.m.
Panel version: 0.0

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