Hydrocephalus
Gene: BUB1B
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
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
Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Source NHS GMS was added to BUB1B.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
BUB1B was added to Hydrocephaluspanel. Sources: Literature
BUB1B was created by helen.brittain