BUB1B

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green BUB1B in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BUB1B in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300
  • Premature ovarian failure

Green BUB1B in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1 (MIM#257300)

Green BUB1B in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300

Green BUB1B in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BUB1B 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
  • Genetic Health Queensland
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300

Green BUB1B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300 (3)

Amber BUB1B in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.340

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

Amber BUB1B in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.260

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • MVA1
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

Green BUB1B in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM#257300

Green BUB1B in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300

Green BUB1B in Prepair 1000+


Level 2: Screening
Version 1.1586

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300

Green BUB1B in Sarcoma soft tissue


Level 2: Cancer Predisposition
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Soft tissue sarcoma, MONDO:0018078
  • Sarcoma, MONDO:0005089
  • Mosaic variegated aneuploidy syndrome 1, MONDO:0009759
  • Mosaic variegated aneuploidy syndrome 1, MIM#257300

Green BUB1B in Wilms Tumour


Level 2: Cancer Predisposition
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Wilms tumor, MONDO:0006058
  • Mosaic variegated aneuploidy syndrome 1, MONDO:0009759
  • Mosaic variegated aneuploidy syndrome 1, MIM#257300