KBTBD2

kelch repeat and BTB domain containing 2
ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KBTBD2 in Mendeliome


Version 1.2302

1 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 1.295

1 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 1.63

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

Green KBTBD2 in Fetal anomalies


Version 1.313

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