Hydrocephalus

Gene: BUB1B

Green List (high evidence)

BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

Green List (high evidence)

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 reported
Created: 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 257300
OMIM
602860
Clinvar variants
Variants in BUB1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BUB1B.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Apr 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

BUB1B was added to Hydrocephaluspanel. Sources: Literature

27 Apr 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

BUB1B was created by helen.brittain