1. Genes and Genomic Entities
  2. HDAC4

HDAC4

histone deacetylase 4
OMIM: 605314, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red HDAC4 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

review Not set
Sources
  • Emory Genetics Laboratory
Amber HDAC4 in Limb disorders


Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430
    Amber HDAC4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • Albright hereditary osteodystrophy type 3
    • Brachydactyly-intellectual disability
    • Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430
    • Albright hereditary osteodystrophy-like syndrome
    • Del(2)(q37) 600430
    Red HDAC4 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 Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
    Red HDAC4 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • craniosynostosis, MONDO:0015469
    Tags
    • cnv
    Green HDAC4 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430
    Green HDAC4 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, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Brachydactyly-mental retardation syndrome, 600430
    • BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (BDMR)
    Green HDAC4 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
    • Brachydactyly-mental retardation syndrome, 600430