Hydrocephalus
Gene: BUB1BEnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Evidence of causation is there. Hydrocephalus is a reported feaure, although in association with marked microcephaly on the whole.Created: 4 May 2017, 8:43 a.m.
>4 families reported with mutations. Phenotype variable but hydrocephalus reportedCreated: 27 Apr 2017, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1 257300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1, OMIM:257300
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- Complete
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BUB1B.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)BUB1B was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)BUB1B was created by helen.brittain