Hydrocephalus
Gene: CENPF
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: 3 unrelated families previously considered acceptable on discussion with curation team, therefore include as phenotype includes hydrocephalus.Created: 4 May 2017, 8:49 a.m.
Comment on list classification: 3 unrelated families reported therefore borderline, but considered acceptable for inclusion.Created: 4 May 2017, 8:47 a.m.
Three unrelated families reported to date. Variable severity of phenotype but hydrocephalus is reported.Created: 27 Apr 2017, 1:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome 243605
Publications
Phenotypes for gene: CENPF were changed from Stromme syndrome 243605 to Stromme syndrome, OMIM:243605
Source NHS GMS was added to CENPF.
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).
CENPF was created by helen.brittain
CENPF was added to Hydrocephaluspanel. Sources: Literature