KBTBD2

kelch repeat and BTB domain containing 2
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber KBTBD2 in Monogenic diabetes


Level 2: Endocrinology
Version 3.17
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Amber KBTBD2 in Severe microcephaly


Level 2: Neurology
Version 8.43
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Amber KBTBD2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092