1. Genes and Genomic Entities
  2. BUB1B

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B
OMIM: 602860, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Amber BUB1B in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.71

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian failure
Green BUB1B in Hydrocephalus


Level 2: Neurology
Version 5.12
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Green BUB1B in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300
Green BUB1B in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.12
Latest signed off version: v5.11 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1 257300
  • 257300
Red BUB1B in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Mosaic variegated aneuploidy
Amber BUB1B in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300
Green BUB1B in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1 257300
Green BUB1B in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Green BUB1B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.7
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Green BUB1B 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
    • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
    Amber BUB1B in Clefting


    Level 2: Musculoskeletal
    Version 7.3
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
    • MVA1
    Green BUB1B in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430
    • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
    • MVA1
    Amber BUB1B in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
    • Rhabdomyosarcoma (disease), MONDO:0005212
    Green BUB1B in Embryonal tumour of possible germline origin


    Level 2: Inherited cancer
    Version 1.1
    Latest signed off version: v1.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
    • mosaic variegated aneuploidy syndrome 1, MONDO:0009759
    Green BUB1B in Sarcoma of possible germline origin


    Level 2: Inherited cancer
    Version 1.1
    Latest signed off version: v1.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • mosaic variegated aneuploidy syndrome 1, MONDO:0009759
    • Mosaic variegated aneuploidy syndrome 1, OMIM:257300