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  3. MCM5
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Skeletal dysplasia

Gene: MCM5

Red List (low evidence)
MCM5 (minichromosome maintenance complex component 5)
EnsemblGeneIds (GRCh38): ENSG00000100297
EnsemblGeneIds (GRCh37): ENSG00000100297
OMIM: 602696, Gene2Phenotype
MCM5 is in 4 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Compound heterozgyous variants reported in one patient who presented with microstomia, thick lips, micrognathia, bilateral microtia, low set ears and bilateral cryptorchidism.
Created: 15 Jul 2020, 12:48 a.m. | Last Modified: 15 Jul 2020, 12:48 a.m.
Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Meier-Gorlin syndrome 8 (MIM#617564)

Publications

Created: 15 Jul 2020, 12:48 a.m.
Last Modified: 15 Jul 2020, 12:48 a.m.
Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meier-Gorlin syndrome 8, MIM# 617564
OMIM
602696
Clinvar variants
Variants in MCM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm5 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM5 were changed from Meier-Gorlin syndrome 8, MIM# 617564 to Meier-Gorlin syndrome 8, MIM# 617564

15 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 617564 to Meier-Gorlin syndrome 8, MIM# 617564

17 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCM5 was added gene: MCM5 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM5 were set to 28198391 Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 617564