PanelApp (test)
  1. Genes and Genomic Entities
  2. BUB1B:Ensemblv90

BUB1B:Ensemblv90

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

27 panels

Panel Reviews Mode of inheritance Details
27 panels

Green BUB1B in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BUB1B in Mendeliome


Version 1.3802

2 reviews 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 1.376

2 reviews 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 0.132

1 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 0.578

0 reviews 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 1.508

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300

Green BUB1B in Wilms Tumour Predisposition


Level 2: Cancer predisposition
Version 0.40

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red BUB1B in CGC_86


Version 0.3

0 reviews Other
Sources
  • CGC_86
Phenotypes
  • Mosaic variegated aneuploidy syndrome

Red BUB1B in NCGC


Version 0.3

0 reviews Other
Sources
  • NCGC
Phenotypes
  • Mosaic variegated aneuploidy syndrome

Red BUB1B in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Mosaic variegated aneuploidy syndrome

Green BUB1B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews 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 0.391

2 reviews 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 0.293

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

Green BUB1B in Growth failure


Version 1.87

1 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 1.482

2 reviews 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 2.15

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

Green BUB1B in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green BUB1B in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

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

Green BUB1B in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green BUB1B in Wilms Tumour Predisposition


Level 2: Cancer predisposition
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Red BUB1B in TCGA_PANCAN_2018


Version 1.0

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Mosaic variegated aneuploidy syndrome

Green BUB1B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
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 1.0

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

Amber BUB1B in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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

Green BUB1B in Growth failure


Version 2.0

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

Green BUB1B in Fetal anomalies


Version 2.0

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

Green BUB1B in Prepair 1000+


Level 2: Screening
Version 3.0

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