1. Panels
  2. Primary ovarian insufficiency
  3. FIGLA
STRs in panel
Prev Next
Regions in panel
Prev Next

Primary ovarian insufficiency

Gene: FIGLA

Amber List (moderate evidence)
FIGLA (folliculogenesis specific bHLH transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000183733
EnsemblGeneIds (GRCh37): ENSG00000183733
OMIM: 608697, Gene2Phenotype
FIGLA is in 1 panel

2 reviews

Arianna Tucci (Genomics England Curator)

I don't know

Comment when marking as ready: Marked as amber as < 3 variants described in patients with the phenotype
Created: 22 May 2017, 8:38 a.m.
Two mutations (p.G6fsX66, p.140 delAsn) described in two patients from China and absent in controls, and three variants also detected in controls (18499083). Some limited functional data on the effect of the mutation in the protein. Hence, the evidence that this is a gene causing POI is limited.
Created: 30 Mar 2017, 4:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure 6, 612310

Publications

Created: 30 Mar 2017, 4:14 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, 2:38 p.m.
Created: 13 Jun 2016, 2:38 p.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Premature ovarian failure,612310
  • Premature Ovarian Failure
OMIM
608697
Clinvar variants
Variants in FIGLA
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.

22 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).

22 May 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for FIGLA were set to 18499083

22 May 2017, Gel status: 2

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for FIGLA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jun 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

13 Jun 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

FIGLA was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FIGLA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FIGLA was created by ellenmcdonagh