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  3. HESX1
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Congenital hypothyroidism

Gene: HESX1

Green List (high evidence)
HESX1 (HESX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000163666
EnsemblGeneIds (GRCh37): ENSG00000163666
OMIM: 601802, Gene2Phenotype
HESX1 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypic spectrum ranging from isolated hormone deficiency, e.g. GH to septs-optic dysplasia.
Created: 12 Feb 2021, 9:48 a.m. | Last Modified: 12 Feb 2021, 9:48 a.m.
Panel Version: 0.28

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined, 5, MIM# 182230

Created: 12 Feb 2021, 9:48 a.m.
Last Modified: 12 Feb 2021, 9:48 a.m.
Panel version: 0.28

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 5, MIM# 182230
OMIM
601802
Clinvar variants
Variants in HESX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hesx1 has been classified as Green List (High Evidence).

12 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HESX1 were changed from GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism to Pituitary hormone deficiency, combined, 5, MIM# 182230

3 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HESX1 was added gene: HESX1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HESX1 were set to 9620767; 26416826 (2015 review); 11136712 Phenotypes for gene: HESX1 were set to GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism