1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. POF1B
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: POF1B

Amber List (moderate evidence)
POF1B (POF1B, actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000124429
EnsemblGeneIds (GRCh37): ENSG00000124429
OMIM: 300603, Gene2Phenotype
POF1B is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One family reported with bi-allelic variants in this gene, and another individual reported with SNV and a translocation disrupting the locus.
Created: 11 Dec 2020, 5:10 a.m. | Last Modified: 11 Dec 2020, 5:10 a.m.
Panel Version: 0.133

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Premature ovarian failure 2B, MIM# 300604

Publications

Created: 11 Dec 2020, 5:10 a.m.
Last Modified: 11 Dec 2020, 5:10 a.m.
Panel version: 0.133

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Genetic Health QLD
Phenotypes
  • Premature ovarian failure 2B, MIM# 300604
OMIM
300603
Clinvar variants
Variants in POF1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pof1b has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POF1B were changed from to Premature ovarian failure 2B, MIM# 300604

11 Dec 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POF1B were set to

11 Dec 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pof1b has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: POF1B was added gene: POF1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: POF1B was set to Unknown