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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. DMC1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: DMC1

Amber List (moderate evidence)
DMC1 (DNA meiotic recombinase 1)
EnsemblGeneIds (GRCh38): ENSG00000100206
EnsemblGeneIds (GRCh37): ENSG00000100206
OMIM: 602721, Gene2Phenotype
DMC1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

1 case with POI and 1 family with diminished ovarian reserve rather than POI, and a supporting mouse model
PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family.
PMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.
PMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease
PMID: 9660954, 9660953 - both male and female knockout mice are sterile.
Sources: Literature
Created: 30 Nov 2021, 12:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency; non-obstructive azoospermia

Publications

Created: 30 Nov 2021, 12:09 a.m.

Panel version: 0.245

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency
  • non-obstructive azoospermia
OMIM
602721
Clinvar variants
Variants in DMC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dmc1 has been classified as Amber List (Moderate Evidence).

30 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dmc1 has been classified as Amber List (Moderate Evidence).

30 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DMC1 was added gene: DMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953 Phenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia Review for gene: DMC1 was set to AMBER