BUB1B

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber BUB1B in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Premature ovarian failure
Green BUB1B in Hydrocephalus Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Green BUB1B in Familial rhabdomyosarcoma Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mosaic variegated aneuploidy syndrome 1, 257300
Green BUB1B in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert List Expert Review Green Expert list Phenotypes Mosaic variegated aneuploidy syndrome 1 257300 257300
Red BUB1B in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Mosaic variegated aneuploidy
Amber BUB1B in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.25	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Mosaic variegated aneuploidy syndrome 1, 257300
Green BUB1B in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mosaic variegated aneuploidy syndrome 1 257300
Green BUB1B in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Green BUB1B in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Green BUB1B in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Amber BUB1B in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.108 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 MVA1
Green BUB1B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 MVA1
Amber BUB1B in Sarcoma susceptibility Version 1.81 Latest signed off version: v1.2 (18 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Literature Expert Review Amber Phenotypes Mosaic variegated aneuploidy syndrome 1, OMIM:257300 Rhabdomyosarcoma (disease), MONDO:0005212
Green BUB1B in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mosaic variegated aneuploidy syndrome 1, 257300