BUB1B

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green BUB1B in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BUB1B in Mendeliome Version 1.2302	2 reviews	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 1.295	2 reviews	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	1 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 0.540	0 reviews	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 1.63	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Green BUB1B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	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 0.339	2 reviews	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 0.260	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MVA1 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Green BUB1B in Growth failure Version 1.76	1 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 1.313	2 reviews	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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Green BUB1B in Sarcoma soft tissue Level 2: Cancer Predisposition Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert list Phenotypes Soft tissue sarcoma, MONDO:0018078 Sarcoma, MONDO:0005089 Mosaic variegated aneuploidy syndrome 1, MONDO:0009759 Mosaic variegated aneuploidy syndrome 1, MIM#257300
Green BUB1B in Wilms Tumour Level 2: Cancer Predisposition Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert list Phenotypes Wilms tumor, MONDO:0006058 Mosaic variegated aneuploidy syndrome 1, MONDO:0009759 Mosaic variegated aneuploidy syndrome 1, MIM#257300