1. Panels
  2. Congenital hypothyroidism
  3. POU1F1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital hypothyroidism

Gene: POU1F1

Green List (high evidence)
POU1F1 (POU class 1 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000064835
EnsemblGeneIds (GRCh37): ENSG00000064835
OMIM: 173110, Gene2Phenotype
POU1F1 is in 12 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • congenital hypothyroidism
  • Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)
OMIM
173110
Clinvar variants
Variants in POU1F1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POU1F1 was added gene: POU1F1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POU1F1 were set to 16060904; 11297581; 26416826 Phenotypes for gene: POU1F1 were set to congenital hypothyroidism; Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism) Mode of pathogenicity for gene: POU1F1 was set to Other - please provide details in the comments