Primary ovarian insufficiency
Gene: MCM8EnsemblGeneIds (GRCh38): ENSG00000125885
EnsemblGeneIds (GRCh37): ENSG00000125885
OMIM: 608187, Gene2Phenotype
MCM8 is in 1 panel
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Clear published evidence of multiple affected individuals with hypergonadotropic hypogonadismCreated: 9 Jun 2017, 3:15 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as mutation described in 3 families with hypergonadotropic primary amenorrheaCreated: 22 May 2017, 9:56 a.m.
Associated with primary amenorrhea in 3 unrelated consanguineous families; 3 variants reported.
Functional role established in oocites.Created: 11 May 2017, 8:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure 10, 612885
Publications
Ellen McDonagh (Genomics England Curator)
This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.Created: 13 Jun 2016, 2:40 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Expert list
- Phenotypes
-
- premature ovarian failure
- OMIM
- 608187
- Clinvar variants
- Variants in MCM8
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for MCM8 were set to 25873734; 25437880; 22771120
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MCM8 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)MCM8 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)MCM8 was created by ellenmcdonagh