PROP1

PROP paired-like homeobox 1
OMIM: 601538
PanelMode of inheritanceDetails
3 panels
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency, Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations, Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time, Pituitary hormone deficiency, combined, 2, 262600
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600
R-numbers: R159
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 2 (262600)