1. Genes and Genomic Entities
  2. SUPT16H

SUPT16H

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red SUPT16H in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • SUPT16H-related neurodevelopmental disorder
    Green SUPT16H in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480
    • Global developmental delay
    • Intellectual disability
    • Abnormality of the corpus callosum