PanelApp
  1. Genes and Genomic Entities
  2. ZBTB16

ZBTB16

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ZBTB16 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447

Amber ZBTB16 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447

Red ZBTB16 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

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

Red ZBTB16 in Incidentalome_PREGEN_DRAFT


Version 0.43

1 review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology