BUB1

BUB1 mitotic checkpoint serine/threonine kinase
OMIM: 602452, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber BUB1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary microcephaly-30 (MCPH30), MIM#620183

Amber BUB1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary microcephaly-30 (MCPH30), MIM#620183

Amber BUB1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary microcephaly-30 (MCPH30), MIM#620183