1. Genes and Genomic Entities
  2. HIST1H1E

HIST1H1E

histone cluster 1 H1 family member e
OMIM: 142220, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green HIST1H1E in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Research
Phenotypes
  • OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
  • Rahman syndrome, 617537
Tags
  • new-gene-name
Green HIST1H1E in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Rahman syndrome, OMIM:617537
  • Rahman syndrome, MONDO:0044323
Tags
  • new-gene-name
Red HIST1H1E in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
Tags
  • new-gene-name
Green HIST1H1E in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Childhood overgrowth
    Tags
    • new-gene-name
    Green HIST1H1E in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Other
    Phenotypes
    • Rahman syndrome, 617537
    • mild to severe intellectual disability
    Tags
    • new-gene-name
    Green HIST1H1E in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rahman syndrome, 617537
    Tags
    • new-gene-name