1. Genes and Genomic Entities
  2. HIVEP2

HIVEP2

human immunodeficiency virus type I enhancer binding protein 2
OMIM: 143054, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green HIVEP2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HIVEP2 associated syndromic developmental delay with intellectual disability
Green HIVEP2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HIVEP2 associated syndromic developmental delay with intellectual disability
    Green HIVEP2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.346
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 43, 616977
    • MRD43
    • Intellectual disability