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  3. PSMC3IP
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Primary ovarian insufficiency

Gene: PSMC3IP

Amber List (moderate evidence)
PSMC3IP (PSMC3 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000131470
EnsemblGeneIds (GRCh37): ENSG00000131470
OMIM: 608665, Gene2Phenotype
PSMC3IP is in 1 panel

2 reviews

Arianna Tucci (Genomics England Curator)

I don't know

Comment when marking as ready: Marked a amber as only reported in one family
Created: 30 May 2017, 12:31 p.m.
One homozygous mutations initially reported in affected members of a large consanguineous Arab Palestinian pedigree with ovarian dysgenesis. A subsequent study in a Swedish cohort of women with POI failed to find any mutations.
Created: 11 May 2017, 9:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ovarian dysgenesis 3, 614324

Publications

Created: 11 May 2017, 9:18 a.m.

Panel version: 0.7

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.
Created: 13 Jun 2016, 2:40 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • premature ovarian failure
  • Ovarian dysgenesis 3,614324
OMIM
608665
Clinvar variants
Variants in PSMC3IP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for PSMC3IP were set to 21963259; 24481226

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSMC3IP was added to Early onset familial premature ovarian insufficiencypanel. Source: Other

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSMC3IP was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PSMC3IP was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PSMC3IP was created by ellenmcdonagh