1. Genes and Genomic Entities
  2. DNMT3A

DNMT3A

DNA methyltransferase 3 alpha
OMIM: 602769, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red DNMT3A in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red DNMT3A in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
  • acute myeloid leukaemia
  • aquired aplastic anaemia
Tags
  • somatic
Green DNMT3A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Heyn-Sproul-Jackson syndrome OMIM:618724
  • MONDO:0032882
Green DNMT3A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tatton-Brown-Rahman syndrome 615879
    Green DNMT3A 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
    • Tatton-Brown-Rahman syndrome, 615879
    • OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
    • DNMT3A overgrowth syndrome
    Green DNMT3A in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
    Green DNMT3A in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879
    • Microcephalic primordial dwarfism
    Green DNMT3A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    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
    Phenotypes
    • Tatton-Brown-Rahman syndrome OMIM:615879
    • Heyn-Sproul-Jackson syndrome OMIM:618724
    • MONDO:0032882
    Green DNMT3A 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
    • Tatton-Brown-Rahman syndrome, 615879