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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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