Primary ovarian insufficiency
Gene: POF1B
Comment when marking as ready: Marked as amber as <3 affected described with biallelic mutations, but it is a good candidate based on the literatureCreated: 22 May 2017, 8:59 a.m.
Limited evidence of association. One homozygous mutation described in 5 affected females of large consanguineous family from Lebanon (16773570).
25676666 describes one patient carrying a balance translocation involving the POF1B and a missense mutation in POF1B.Created: 10 May 2017, 12:24 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Premature ovarian failure 2B, 300604
Publications
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 POF1B were set to 16773570; 26243799
This gene has been classified as Amber List (Moderate Evidence).
POF1B was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services
POF1B was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
POF1B was created by ellenmcdonagh
POF1B was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list