H4C3

H4 clustered histone 3
OMIM: 602827, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green H4C3 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758
Tags
  • new gene name

Green H4C3 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758
Tags
  • new gene name

Green H4C3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758
Tags
  • new gene name

Green H4C3 in Fetal anomalies


Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758
Tags
  • new gene name