Hydrocephalus
Gene: CCDC88C
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: Three cases considered appropriate evidence on prior d/w curation team.Created: 4 May 2017, 9 a.m.
10 patients (inc. fetuses) from 3 unrelated families (different populations) with hydrocephalus. Mutations inc splice, nonsense and frameshift. Borderline but three cases considered appropriate evidence.Created: 4 May 2017, 8:59 a.m.
Comment on list classification: 10 patients (inc fetuses) from 3 unrelated families from different populations with hydrocephalus. Mutations inc nonsense, splice and frameshift.Created: 4 May 2017, 8:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus, nonsyndromic, autosomal recessive 236600
Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
Source NHS GMS was added to CCDC88C.
Phenotypes for CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 236600
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 236600
This gene has been classified as Green List (High Evidence).
Publications for CCDC88C were set to 21031079; 23042809
CCDC88C was created by oniblock
CCDC88C was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen