Hydrocephalus

Gene: CC2D2A

Green List (high evidence)

CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 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)

Above PMID reports 20 patients from 17 families. Higher proportion of ventriculomegaly and seizures in this genetic sub-group. Therefore appropriate for inclusion on hydrocephalus panel.
Created: 7 Nov 2017, 1:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 9 612285

Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CC2D2A.

7 Nov 2017, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2017, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

CC2D2A was added to Hydrocephalus panel. Sources: Literature

7 Nov 2017, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

CC2D2A was created by Helen Brittain