SUPT16H

SPT16 homolog, facilitates chromatin remodeling subunit
OMIM: 605012, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SUPT16H in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480
  • Intellectual disability
  • Abnormality of the corpus callosum

Green SUPT16H in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480
  • Intellectual disability
  • Abnormality of the corpus callosum

Green SUPT16H in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480
  • Intellectual disability
  • Abnormality of the corpus callosum