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Newborns main panel

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: 0.480
Created: 26 Sep 2024, 4:07 p.m.
Last Modified: 18 Nov 2025, 3:33 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
>10 AR cases PMID: 34815942 and PMID: 33742319,
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 1, autosomal recessive
Tags
special_consideration
OMIM
173110
Clinvar variants
Variants in POU1F1
Penetrance
None
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 recessive

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

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to POU1F1. Mode of inheritance for gene POU1F1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pituitary hormone deficiency, combined or isolated, 1 for gene: POU1F1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: POU1F1 was added gene: POU1F1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal