1. Panels
  2. Monogenic short stature
  3. POU1F1
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Monogenic short stature

Gene: POU1F1

Red List (low evidence)
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)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.81

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
  • Variable degree of TSH deficiency
OMIM
173110
Clinvar variants
Variants in POU1F1
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: POU1F1 was added gene: POU1F1 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038; Variable degree of TSH deficiency