Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BUB1BEnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
There is a well established association between bi-allelic variants and mosaic variegated aneuploidy syndrome, MIM#257300
PMID: 32716490 - Chen et al 2020 - report 2 cases of heterogyzous variants in BUB1B in patients with premature ovarian insufficiency. In the familial case a rare missense variant of BUB1B c.273A>T (p.Gln91His) was shared by all affected individuals. A novel stop-gain variant of BUB1B c.1509T>A (p.Cys503*) was found in one of 200 sporadic POI cases and was found to be paternal in origin. In a mouse model with a loss-of-function mutant of Bub1b, Bub1b+/− female mice presented late-onset subfertility. Complete loss of Bub1b caused embryonic lethality in mice..
Sources: LiteratureCreated: 6 Oct 2020, 10:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure
Publications
Eleanor Williams (Genomics England)
PMID: 32716490 - Chen et al 2020 - report 2 cases of heterogyzous variants in BUB1B in patients with premature ovarian insufficiency. In the familial case a rare missense variant of BUB1B c.273A>T (p.Gln91His) was shared by all affected individuals. A novel stop-gain variant of BUB1B c.1509T>A (p.Cys503*) was found in one of 200 sporadic POI cases and was found to be paternal in origin. In a mouse model with a loss-of-function mutant of Bub1b, Bub1b+/− female mice presented late-onset subfertility. Complete loss of Bub1b caused embryonic lethality in mice.Created: 6 Oct 2020, 1:36 p.m. | Last Modified: 6 Oct 2020, 1:36 p.m.
Panel Version: 0.4807
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
premature ovarian insufficiency
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Premature ovarian failure
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bub1b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bub1b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BUB1B was added gene: BUB1B was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: BUB1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BUB1B were set to 32716490 Phenotypes for gene: BUB1B were set to Premature ovarian failure Review for gene: BUB1B was set to AMBER