Hydrocephalus

Gene: CCDC88C

Green List (high evidence)

CCDC88C (coiled-coil domain containing 88C)
EnsemblGeneIds (GRCh38): ENSG00000015133
EnsemblGeneIds (GRCh37): ENSG00000015133
OMIM: 611204, Gene2Phenotype
CCDC88C is in 10 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: 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 236600
OMIM
611204
Clinvar variants
Variants in CCDC88C
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 CCDC88C.

3 May 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 236600

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

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 236600

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: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for CCDC88C were set to 21031079; 23042809

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

CCDC88C was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

CCDC88C was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen