Clefting disorders
Gene: BUB1BEnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- MVA1
- MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Mendeliome
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Callosome
- Wilms Tumour
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hydrocephalus_Ventriculomegaly
- Growth failure
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BUB1B was added gene: BUB1B was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BUB1B were set to MVA1; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1