HDAC8

histone deacetylase 8
OMIM: 300269, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green HDAC8 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cornelia de Lange syndrome 5, 300882
Green HDAC8 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cornelia De Lange
Green HDAC8 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Cornelia de Lange syndrome 5, 300882
    Green HDAC8 in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Cornelia de Lange syndrome 5, 300882 (includes Small head circumference)
    Green HDAC8 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Wilson-Turner syndrome 309585
    • Cornelia de Lange syndrome 5 300882
    Green HDAC8 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • WILSON-TURNER SYNDROME
    • CORNELIA DE LANGE-LIKE SYNDROME
    Green HDAC8 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR
    • Cornelia de Lange Syndrome HDAC8 X-linked dominant
    Green HDAC8 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • CORNELIA DE LANGE SYNDROME 5
    • CDLS5
    Green HDAC8 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882
    • CORNELIA DE LANGE-LIKE SYNDROME
    Red HDAC8 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Phenotypes
    • Cornelia De Lange