H3-3A

H3.3 histone A
OMIM: 601128, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green H3-3A in Mendeliome


Version 2.0

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 H3-3A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green H3-3A in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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 H3-3A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 H3-3A in Fetal anomalies


Version 2.0

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