Primary ovarian insufficiency
Gene: POF1BEnsemblGeneIds (GRCh38): ENSG00000124429
EnsemblGeneIds (GRCh37): ENSG00000124429
OMIM: 300603, Gene2Phenotype
POF1B is in 1 panel
1 review
Arianna Tucci (Genomics England Curator)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- premature ovarian failure
- Premature ovarian failure 2B,300604
- Premature Ovarian Failure 2B
- OMIM
- 300603
- Clinvar variants
- Variants in POF1B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for POF1B were set to 16773570; 26243799
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POF1B was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)POF1B was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)POF1B was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)POF1B was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list