Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FIGLA

Green List (high evidence)

FIGLA (folliculogenesis specific bHLH transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000183733
EnsemblGeneIds (GRCh37): ENSG00000183733
OMIM: 608697, Gene2Phenotype
FIGLA is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rare variants in FIGLA enriched in POI cohorts. Two unrelated Chinese families reported with bi-allelic variants affecting the start codon.
Created: 14 Dec 2020, 4:46 a.m. | Last Modified: 14 Dec 2020, 4:46 a.m.
Panel Version: 0.177

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 6, MIM# 612310

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Premature ovarian failure, MIM#612310
OMIM
608697
Clinvar variants
Variants in FIGLA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: figla has been classified as Green List (High Evidence).

14 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FIGLA were changed from Premature ovarian failure,612310 to Premature ovarian failure, MIM#612310

14 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FIGLA were set to

14 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FIGLA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FIGLA was added gene: FIGLA was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FIGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FIGLA were set to Premature ovarian failure,612310