Genomics England

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood solid tumours Signed-off version 5.11	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 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Green in Embryonal tumour of possible germline origin R-numbers: R456 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300, mosaic variegated aneuploidy syndrome 1, MONDO:0009759
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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 Sarcoma of possible germline origin R-numbers: R457 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes mosaic variegated aneuploidy syndrome 1, MONDO:0009759, Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300