Primary ovarian insufficiency
Gene: BUB1B
BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 13 May 2021, 2:13 p.m. | Last Modified: 13 May 2021, 2:13 p.m.
Panel Version: 1.23
Zornitza Stark (Australian Genomics)
The association between bi-allelic variants and mosaic variegated aneuploidy syndrome, MIM#257300 is well established.
Moderate evidence for association between mono-allelic variants and POF, PMID 32716490
Sources: LiteratureCreated: 2 Nov 2020, 9:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Premature ovarian failure
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hydrocephalus
- Sarcoma susceptibility
- Childhood solid tumours
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Fetal anomalies
- Clefting
- Severe microcephaly
- Bilateral congenital or childhood onset cataracts
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
13 May 2021, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: bub1b has been classified as Amber List (Moderate Evidence).
2 Nov 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: BUB1B was added gene: BUB1B was added to Primary ovarian insufficiency. 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