Severe microcephaly
Gene: BUB1BEnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.Created: 5 May 2021, 11:55 a.m. | Last Modified: 5 May 2021, 11:55 a.m.
Panel Version: 2.124
Zornitza Stark (Australian Genomics)
Severe microcephaly is a feature of MVAS. PMID: 18548531: review of 13 families with 12 presenting with microcephaly
Sources: Expert listCreated: 4 Sep 2020, 10:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1 (MIM#257300)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1, OMIM:257300
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hydrocephalus
- Sarcoma susceptibility
- Childhood solid tumours
- DDG2P
- Sarcoma cancer susceptibility
- Fetal anomalies
- Primary ovarian insufficiency
- Clefting
- Severe microcephaly
- Bilateral congenital or childhood onset cataracts
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: BUB1B.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to BUB1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: bub1b has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: BUB1B.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 (MIM#257300) to Mosaic variegated aneuploidy syndrome 1, OMIM:257300
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 Severe microcephaly. Sources: Expert list Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1B were set to 18548531 Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1 (MIM#257300) Review for gene: BUB1B was set to GREEN gene: BUB1B was marked as current diagnostic