Genomics England

HESX1

HESX homeobox 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital hypothyroidism 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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes SEPTOOPTIC DYSPLASIA 256657, HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Septooptic dysplasia, OMIM:182230, Septooptic dysplasia, MONDO:0008428
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230, Pituitary hormone deficiency, combined, 5, OMIM:182230, Septooptic dysplasia, OMIM:182230
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230, Pituitary hormone deficiency, combined, 5, OMIM:182230, Septooptic dysplasia, OMIM:182230