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  3. FSHR
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Primary ovarian insufficiency

Gene: FSHR

Green List (high evidence)
FSHR (follicle stimulating hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000170820
EnsemblGeneIds (GRCh37): ENSG00000170820
OMIM: 136435, Gene2Phenotype
FSHR is in 1 panel

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Clear association with hypergonadotropic ovarian failure/POI
Created: 9 Jun 2017, 2:54 p.m.
Created: 9 Jun 2017, 2:54 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as associated with the phenotype in OMIM
Created: 22 May 2017, 8:54 a.m.
Biallelic mutations described in both primary and secondary amenorrhea, more common in the Finnish population
Created: 27 Apr 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400

Created: 27 Apr 2017, 3:39 p.m.

Panel version: 0.6

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, 2:39 p.m.
Created: 13 Jun 2016, 2:39 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ovarian dysgenesis 1 233300
  • Ovarian response to FSH stimulation 276400
OMIM
136435
Clinvar variants
Variants in FSHR
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

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

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for FSHR were set to Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jun 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

FSHR was added to Early onset familial premature ovarian insufficiencypanel. Source: Other Model of inheritance for gene FSHR was set to BIALLELIC, autosomal or pseudoautosomal

13 Jun 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

FSHR was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FSHR was created by ellenmcdonagh

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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