H3F3A

H3 histone family member 3A
OMIM: 601128, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green H3F3A in Malformations of cortical development


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay
    • Intellectual disability
    • Neurodegeneration
    • Epilepsy
    • Facial dysmorphism
    • Congenital anomalies
    Tags
    • new-gene-name
    Green H3F3A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720
    Tags
    • new-gene-name
    Red H3F3A in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • craniosynostosis, MONDO:0015469
    Green H3F3A in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720
    Tags
    • new-gene-name
    Green H3F3A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental delay
    • Intellectual disability
    • Neurodegeneration
    • Epilepsy
    • Facial dysmorphism
    • Congenital anomalies
    Tags
    • new-gene-name
    Green H3F3A in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental delay
    • Intellectual disability
    • Neurodegeneration
    • Epilepsy
    • Facial dysmorphism
    • Congenital anomalies
    Tags
    • new-gene-name