PanelApp (test)
  1. Genes and Genomic Entities
  2. H3F3A:Ensemblv90

H3F3A:Ensemblv90

H3 histone family member 3A
OMIM: 601128, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green H3F3A in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720

Green H3F3A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720

    Green H3F3A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720

    Green H3F3A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720

    Green H3F3A in Fetal anomalies


    Version 1.482

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Bryant-Li-Bhoj neurodevelopmental syndrome 1, MIM# 619720

    Green H3F3A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720

    Green H3F3A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720