Genomics England
GMS Panels
Panels
Genes and Entities

POU1F1

POU class 1 homeobox 1
OMIM: 173110
PanelMode of inheritanceDetails
4 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism), congenital hypothyroidism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038