Newborns main panel
Gene: MCM4

MCM4 (minichromosome maintenance complex component 4)
EnsemblGeneIds (GRCh38): ENSG00000104738
EnsemblGeneIds (GRCh37): ENSG00000104738
OMIM: 602638, Gene2Phenotype
MCM4 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Internal inclusion list only.

Additional Information: Targeting the single MCM4 variant that has been linked to immunodeficiency in the Irish Traveller community (https://www.ncbi.nlm.nih.gov/clinvar/variation/37234/) LOF algorithm has been switched off.
Created: 11 Dec 2024, 1:48 p.m. | Last Modified: 5 Jan 2026, 9:41 a.m.

Panel Version: 0.500

Publications

Created: 11 Dec 2024, 1:48 p.m.
Last Modified: 5 Jan 2026, 9:41 a.m.
Panel version: 0.471

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 22354167 - 2 families with 2 different path variants - one same as irish traveler clans, PMID: 22499342 - 3 irish traveler clan. PMID: 22499342 - 10 chldren - irish traveler population
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Adrenal insufficiency experts thought one specific variant should be included from an adrenal insufficiency point of view.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Immunodeficiency 54

Tags

special_consideration internal_inclusion_list_only

OMIM

602638

Clinvar variants

Variants in MCM4

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

5 Jan 2026, Gel status: 3

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: MCM4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

11 Dec 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MCM4 were set to

11 Dec 2024, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: MCM4. Tag internal_inclusion_list_only tag was added to gene: MCM4.

27 Sep 2023, Gel status: 3