HESX1

PanelMode of inheritanceDetails
3 panels
R-numbers: R145
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Panhypopiuitarism, GH and evolving TSH, ACTH, LH/FSH deficiency, septo-optic dysplasia, anterior pituitary, ectopic posterior pituitary, agenesis of corpus callous, optic nerve hypoplasia, Pituitary hormone deficiency, combined, 5, 182230
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Septooptic dysplasia, 182230Pituitary hormone deficiency, combined, 5, 182230Growth hormone deficiency with pituitary anomalies, 182230, HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
R-numbers: R159
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Growth hormone deficiency with pituitary anomalies (182230), Pituitary hormone deficiency, combined, 5 (182230)