Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FIGLAEnsemblGeneIds (GRCh38): ENSG00000183733
EnsemblGeneIds (GRCh37): ENSG00000183733
OMIM: 608697, Gene2Phenotype
FIGLA is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: figla has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FIGLA were set to
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
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