BUB1B

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

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	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BUB1B in Mendeliome Version 1.2374	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 1.301	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 0.540	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 1.83	review	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	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 0.340	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 0.260	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 1.314	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 1.1586	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	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	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