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  3. POU1F1
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Newborns additional phenotypes panel 1

Gene: POU1F1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Pituitary hormone deficiency are included.
Created: 26 Sep 2024, 4:07 p.m. | Last Modified: 18 Nov 2025, 3:33 p.m.
Panel Version: 0.102
Created: 26 Sep 2024, 4:07 p.m.
Last Modified: 18 Nov 2025, 3:33 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
dominant negative cases - 1 case - PMID: 26612202, 1 case - PMID: 10077004, 1 case - PMID: 25119036, 6 cases - PMID: 34270938, 1 case - PMID: 31315769
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant
Tags
special_consideration
OMIM
173110
Clinvar variants
Variants in POU1F1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: POU1F1.

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined or isolated, 1 to Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pituitary hormone deficiency, combined or isolated, 1 for gene: POU1F1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pituitary hormone deficiency, combined or isolated, 1 for gene: POU1F1

31 May 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: POU1F1 was added gene: POU1F1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: POU1F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined or isolated, 1 Mode of pathogenicity for gene: POU1F1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments