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Genetic epilepsy syndromes

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

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR COACH syndrome (Mental retadation, ataxia due to cerebellar hypplasia and hepatic fibrosis, seizures less common (Brancati et al, 2009 - 14 families - 17% had seizures -thought to be a subtype of Joubert syndrome), AR Joubert syndrome 9 (some patients have seizures) and AR Meckel syndrome 6.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome 216360; Joubert syndrome, 612285; Meckel syndrome, 612284

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for all of the associated phenotypes. At least 8 variants reported in unrelated cases of Joubert syndrome 9 612285 and one case of COACH syndrome 216360 displaying seizures as part of the overall phenotype.
Created: 26 Sep 2018, 12:28 p.m.
Comment on phenotypes: Variants also reported in Meckel syndrome 6 612284
Created: 26 Sep 2018, 11:46 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a reported feature of CC2D2A-related Joubert syndrome and COACH syndrome.
Created: 10 Aug 2018, 4:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert/COACH syndromes

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CC2D2A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CC2D2A.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a reported featur

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cc2d2a has been classified as Green List (High Evidence).

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cc2d2a has been classified as Green List (High Evidence).

26 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CC2D2A were set to 22241855; 19574260

26 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CC2D2A were set to 22241855; 19574260

26 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CC2D2A were set to

26 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CC2D2A were changed from to COACH syndrome 216360; Joubert syndrome 9 612285

26 Sep 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to CC2D2A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CC2D2A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CC2D2A was created by Sarah Leigh