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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. MCM9
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: MCM9

Green List (high evidence)
MCM9 (minichromosome maintenance 9 homologous recombination repair factor)
EnsemblGeneIds (GRCh38): ENSG00000111877
EnsemblGeneIds (GRCh37): ENSG00000111877
OMIM: 610098, Gene2Phenotype
MCM9 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Please note emerging link with Lynch-like syndrome: PMIDs 26806154; 34556653; 32841224; 32613604; 37378315
Created: 15 Oct 2023, 7:15 a.m. | Last Modified: 15 Oct 2023, 7:15 a.m.
Panel Version: 0.319
At least 3 unrelated individuals reported.
Created: 18 May 2022, 5:40 a.m. | Last Modified: 18 May 2022, 5:40 a.m.
Panel Version: 0.298

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ovarian dysgenesis 4, MIM# 616185; Hereditary neoplastic syndrome MONDO:0015356

Publications

Created: 18 May 2022, 5:40 a.m.
Last Modified: 18 May 2022, 5:40 a.m.
Panel version: 0.319

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ovarian dysgenesis 4, MIM#616185
  • Hereditary neoplastic syndrome MONDO:0015356
OMIM
610098
Clinvar variants
Variants in MCM9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, MIM#616185 to Ovarian dysgenesis 4, MIM#616185; Hereditary neoplastic syndrome MONDO:0015356

15 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCM9 were set to 25480036; 26771056; 33538981; 33095795

18 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm9 has been classified as Green List (High Evidence).

18 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, 616185 to Ovarian dysgenesis 4, MIM#616185

18 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCM9 were set to

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MCM9 was added gene: MCM9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MCM9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM9 were set to Ovarian dysgenesis 4, 616185