Fetal anomalies
Gene: POU1F1

POU1F1 (POU class 1 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000064835
EnsemblGeneIds (GRCh37): ENSG00000064835
OMIM: 173110, Gene2Phenotype
POU1F1 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.

DDG2P rating in original PAGE list: Confirmed for POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.153

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038

OMIM

173110

Clinvar variants

Variants in POU1F1

Penetrance

None

Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POU1F1 were changed from POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: POU1F1 was added gene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY

Fetal anomalies Gene: POU1F1