1. Genes and Genomic Entities
  2. ZBTB16

ZBTB16

zinc finger and BTB domain containing 16
OMIM: 176797, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red ZBTB16 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.46
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Skeletal defects, genital hypoplasia, and mental retardation 612447
    Red ZBTB16 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447
    Red ZBTB16 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Skeletal defects, genital hypoplasia, and mental retardation, 612447