Genomics England
GMS Panels
Panels
Genes and Entities

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B
OMIM: 602860
PanelMode of inheritanceDetails
6 panels
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1 257300, 257300
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MVA1
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1, OMIM:257300