KBTBD2

kelch repeat and BTB domain containing 2
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KBTBD2 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, KBTBD2-related

Green KBTBD2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, KBTBD2-related

Green KBTBD2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, KBTBD2-related

Green KBTBD2 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, KBTBD2-related