1. Genes and Genomic Entities
  2. BUB1

BUB1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green BUB1 in Severe microcephaly


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 30, primary, autosomal recessive, OMIM:620183
Amber BUB1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.5
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly 30, primary, autosomal recessive, OMIM:620183
Green BUB1 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BUB1-related microcephaly and developmental disorder
    Green BUB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.11
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Microcephaly 30, primary, autosomal recessive, OMIM:620183