Microcephaly
Gene: BUB1BEnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels
2 reviews
Liyan Song (Monash Health)
BUB1B is critical to cell mitosis by regulating the spindle-assembly checkpoint. The different level of BUB1B expression has different consequences for cell mitosis. Heterozygous mutation of BUB1B could cause Premature chromatid separation trait, with biallelic mutations could cause Mosaic variegated aneuploidy syndrome 1.
PCS is observed in over 20 different cases on MIM and MVA1 has also been described in a number of different families.Created: 10 Dec 2022, 10:54 a.m. | Last Modified: 10 Dec 2022, 10:54 a.m.
Panel Version: 1.172
Mode of inheritance
Other
Phenotypes
Mosaic variegated aneuploidy syndrome 1, MIM: #257300; Premature chromatid separation trait, MIM: #176430
Publications
Ain Roesley (Victorian Clinical Genetics Services)
Severe microcephaly is a feature of MVAS (OMIM)
PMID: 18548531;
- review of 13 families with 12 presenting with microcephalyCreated: 2 Sep 2020, 12:25 a.m. | Last Modified: 2 Sep 2020, 12:25 a.m.
Panel Version: 0.270
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1 (MIM#257300)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1 (MIM#257300)
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Publications
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BUB1B were set to 18548531
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: bub1b has been classified as Green List (High Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: BUB1B were changed from to Mosaic variegated aneuploidy syndrome 1 (MIM#257300)
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: BUB1B were set to
Set mode of inheritance
Seb Lunke (Victorian Clinical Genetics Services)Mode of inheritance for gene: BUB1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BUB1B was added gene: BUB1B was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BUB1B was set to Unknown