BUB1B

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green BUB1B in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BUB1B in Mendeliome Version 1.1891	review	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 1.269	review	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 0.131	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 0.522	review	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 0.6063	review	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 0.39	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red BUB1B in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Mosaic variegated aneuploidy syndrome
Red BUB1B in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Mosaic variegated aneuploidy syndrome
Red BUB1B in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Mosaic variegated aneuploidy syndrome
Green BUB1B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	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 0.328	review	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 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MVA1 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Green BUB1B in Growth failure Version 1.76	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 1.255	review	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mosaic variegated aneuploidy syndrome 1, 257300 (3)