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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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Phenotypic spectrum ranging from isolated hormone deficiency to septo-optic dysplasia. Highly variable phenotype.

Septo-optic dysplasia is a clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (OMIM)

PMID: 16940453: Reported 2 homozygous variants with a life-threatening neonatal phenotype
Created: 21 Jan 2025, 2:36 a.m. | Last Modified: 21 Jan 2025, 2:36 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Septooptic dysplasia, MIM#182230; Pituitary hormone deficiency, combined, 5 MIM#182230; Growth hormone deficiency with pituitary anomalies, MIM#182230

Publications

Created: 21 Jan 2025, 2:36 a.m.
Last Modified: 21 Jan 2025, 2:36 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Septooptic dysplasia, MIM#182230
  • Pituitary hormone deficiency, combined, 5 MIM#182230
  • Growth hormone deficiency with pituitary anomalies, MIM#182230
OMIM
601802
Clinvar variants
Variants in HESX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HESX1 were changed from Septooptic dysplasia, 182230 (3) to Septooptic dysplasia, MIM#182230; Pituitary hormone deficiency, combined, 5 MIM#182230; Growth hormone deficiency with pituitary anomalies, MIM#182230

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HESX1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HESX1 was added gene: HESX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Septooptic dysplasia, 182230 (3)