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  2. Deafness_IsolatedAndComplex
  3. MCM2
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Deafness_IsolatedAndComplex

Gene: MCM2

Red List (low evidence)
MCM2 (minichromosome maintenance complex component 2)
EnsemblGeneIds (GRCh38): ENSG00000073111
EnsemblGeneIds (GRCh37): ENSG00000073111
OMIM: 116945, Gene2Phenotype
MCM2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Phenotypes
Deafness, autosomal dominant 70, MIM# 616968

Created: 9 Oct 2020, 1:18 a.m.
Last Modified: 9 Oct 2020, 1:18 a.m.
Panel version: 1.8

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

One family, expression studies.
Sources: Expert list
Created: 31 Dec 2019, 1:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant hearing loss

Publications

Created: 31 Dec 2019, 1:37 a.m.

Panel version: 0.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 70, MIM# 616968
OMIM
116945
Clinvar variants
Variants in MCM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM2 were changed from Autosomal dominant hearing loss to Deafness, autosomal dominant 70, MIM# 616968

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm2 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm2 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: MCM2 was added gene: MCM2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: MCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MCM2 were set to 26196677 Phenotypes for gene: MCM2 were set to Autosomal dominant hearing loss Review for gene: MCM2 was set to RED