Hydrocephalus
Gene: CCDC88CEnsemblGeneIds (GRCh38): ENSG00000015133
EnsemblGeneIds (GRCh37): ENSG00000015133
OMIM: 611204, Gene2Phenotype
CCDC88C is in 9 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: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
- OMIM
- 611204
- Clinvar variants
- Variants in CCDC88C
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CCDC88C.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 236600
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).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 236600
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for CCDC88C were set to 21031079; 23042809
Created
Olivia Niblock (Genomics England Curator)CCDC88C was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)CCDC88C was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen