HESX1 Chromosome 3
HESX homeobox 1
Upload your DNA to see your personal genotypes for variants in HESX1.
What This Gene Does
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000163666
Associated Conditions (15)
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
Septo-optic dysplasia sequence
Pituitary hormone deficiency
combined
1
Amenorrhea
HESX1-related disorder
Inborn genetic diseases
Combined pituitary hormone deficiencies
genetic form
HESX1-Related Disorders
Male infertility with spermatogenesis disorder
PITUITARY HORMONE DEFICIENCY
COMBINED
5
Key Variants
RS141063672
Conflicting classifications of pathogenicity
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
Health Risk
RS143057250
Conflicting classifications of pathogenicity
Septo-optic dysplasia sequence, Pituitary hormone deficiency, combined
Health Risk
RS148422263
Conflicting classifications of pathogenicity
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Inborn genetic diseases
Health Risk
RS2107566038
Conflicting classifications of pathogenicity
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence
Health Risk
RS28936704
Conflicting classifications of pathogenicity
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, Inborn genetic diseases
Health Risk
RS374187836
Conflicting classifications of pathogenicity
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence
Health Risk
RS748972176
Conflicting classifications of pathogenicity
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Inborn genetic diseases
Health Risk
RS752434998
Conflicting classifications of pathogenicity
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
Health Risk
RS765353265
Conflicting classifications of pathogenicity
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, Inborn genetic diseases
Health Risk
RS766234350
Conflicting classifications of pathogenicity
Inborn genetic diseases, Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
Health Risk
RS768165720
Conflicting classifications of pathogenicity
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Male infertility with spermatogenesis disorder
Health Risk
RS770886420
Conflicting classifications of pathogenicity
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, HESX1-Related Disorders
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141063672 | Health Risk | Conflicting classifications of pathogenicity | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
| RS143057250 | Health Risk | Conflicting classifications of pathogenicity | Septo-optic dysplasia sequence, Pituitary hormone deficiency, combined |
| RS148422263 | Health Risk | Conflicting classifications of pathogenicity | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Inborn genetic diseases |
| RS2107566038 | Health Risk | Conflicting classifications of pathogenicity | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS28936704 | Health Risk | Conflicting classifications of pathogenicity | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, Inborn genetic diseases |
| RS374187836 | Health Risk | Conflicting classifications of pathogenicity | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS748972176 | Health Risk | Conflicting classifications of pathogenicity | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Inborn genetic diseases |
| RS752434998 | Health Risk | Conflicting classifications of pathogenicity | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
| RS765353265 | Health Risk | Conflicting classifications of pathogenicity | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, Inborn genetic diseases |
| RS766234350 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
| RS768165720 | Health Risk | Conflicting classifications of pathogenicity | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Male infertility with spermatogenesis disorder |
| RS770886420 | Health Risk | Conflicting classifications of pathogenicity | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, HESX1-Related Disorders |
| RS1238248024 | Health Risk | Likely pathogenic | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS1286347776 | Health Risk | Likely pathogenic | — |
| RS141270468 | Health Risk | Likely pathogenic | — |
| RS777223697 | Health Risk | Likely pathogenic | Septo-optic dysplasia sequence, Pituitary hormone deficiency, combined |
| RS149663188 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS2060462273 | Health Risk | Pathogenic | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS2060466023 | Health Risk | Pathogenic | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS2107565760 | Health Risk | Pathogenic | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS2471733263 | Health Risk | Pathogenic | Septo-optic dysplasia sequence, Septo-optic dysplasia sequence |
| RS2471737125 | Health Risk | Pathogenic | — |
| RS28936416 | Health Risk | Pathogenic | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 |
| RS28936702 | Health Risk | Pathogenic | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS575112817 | Health Risk | Pathogenic | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 |
| RS587776664 | Health Risk | Pathogenic | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 |
| RS745873579 | Health Risk | Pathogenic | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
| RS748460226 | Health Risk | Pathogenic | Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS751011809 | Health Risk | Pathogenic | — |
| RS777833871 | Health Risk | Pathogenic | Septo-optic dysplasia sequence, Pituitary hormone deficiency, combined |
| RS745685399 | Health Risk | Pathogenic/Likely pathogenic | Septo-optic dysplasia sequence, Septo-optic dysplasia sequence |