Primary ovarian insufficiencyGene: FIGLA
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
Premature ovarian failure 6, 612310
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.
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
Publications for FIGLA were set to 18499083
Mode of inheritance for FIGLA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FIGLA was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
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
FIGLA was added to Early onset familial premature ovarian insufficiencypanel. Sources: Radboud University Medical Center, Nijmegen
FIGLA was created by ellenmcdonagh