Genomics England

BUB1 mitotic checkpoint serine/threonine kinase B

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	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 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	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 6.13	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 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300