1. Genes and Genomic Entities
  2. HID1

HID1

HID1 domain containing
OMIM: 605752, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green HID1 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
  • Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Green HID1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.147
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Syndromic infantile encephalopathy
    • Hypopituitarism
    • Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
    Green HID1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Syndromic infantile encephalopathy
    • Hypopituitarism
    • Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983