HESX1

HESX homeobox 1
OMIM: 601802, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green HESX1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Growth hormone deficiency with pituitary anomalies, OMIM:182230
  • Pituitary hormone deficiency, combined, 5, OMIM:182230
  • Septooptic dysplasia, OMIM:182230
Green HESX1 in Pituitary hormone deficiency


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Growth hormone deficiency with pituitary anomalies, OMIM:182230
  • Pituitary hormone deficiency, combined, 5, OMIM:182230
  • Septooptic dysplasia, OMIM:182230
Red HESX1 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Growth hormone deficiency with pituitary anomalies, OMIM:182230
  • Pituitary hormone deficiency, combined, 5, OMIM:182230
  • Septooptic dysplasia, OMIM:182230
Green HESX1 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Septooptic dysplasia, OMIM:182230
  • Septooptic dysplasia, MONDO:0008428
No list HESX1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
  • curated_removed
Green HESX1 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SEPTOOPTIC DYSPLASIA 256657
    • HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358
    Red HESX1 in Growth failure in early childhood


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Growth hormone deficiency with pituitary anomalies, OMIM:182230
    • Pituitary hormone deficiency, combined, 5, OMIM:182230
    • Septooptic dysplasia, OMIM:182230
    Green HESX1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.474
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Growth hormone deficiency with pituitary anomalies, OMIM:182230
    • Pituitary hormone deficiency, combined, 5, OMIM:182230
    • Septooptic dysplasia, OMIM:182230
    Green HESX1 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Growth hormone deficiency with pituitary anomalies, OMIM:182230
    • Pituitary hormone deficiency, combined, 5, OMIM:182230
    • Septooptic dysplasia, OMIM:182230
    Green HESX1 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pituitary hormone deficiency, combined, 5, 182230
    • Growth hormone deficiency with pituitary anomalies, 182230
    • Septooptic dysplasia, 182230