HDAC4

histone deacetylase 4
OMIM: 605314, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red HDAC4 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly mental retardation syndrome
  • Brachydactyly without intellectual disability

Green HDAC4 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly mental retardation syndrome
  • Brachydactyly without intellectual disability
  • Intellectual disability syndrome

Amber HDAC4 in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


Level 2: Endocrine disorders
Version 0.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly mental retardation syndrome
  • Brachydactyly without intellectual disability

Green HDAC4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Brachydactyly mental retardation syndrome
  • Brachydactyly without intellectual disability

Amber HDAC4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Albright hereditary osteodystrophy-like syndrome
  • Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430
  • Albright hereditary osteodystrophy type 3
  • Brachydactyly-intellectual disability
  • Del(2)(q37) 600430

Amber HDAC4 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Albright hereditary osteodystrophy-like syndrome
    • Brachydactyly-intellectual disability
    Tags
    • SV/CNV

    Amber HDAC4 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Brachydactyly mental retardation syndrome
    • Brachydactyly without intellectual disability

    Green ISCA-37394-Loss Region in Common deletion and duplication syndromes


    Version 0.137

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Chromosome 2q37 deletion syndrome, MIM# 600430
    • brachydactyly
    • intellectual disability
    Tags
    • SV/CNV