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Genetic epilepsy syndromes

Gene: CCDC88A

Amber List (moderate evidence)

CCDC88A (coiled-coil domain containing 88A)
EnsemblGeneIds (GRCh38): ENSG00000115355
EnsemblGeneIds (GRCh37): ENSG00000115355
OMIM: 609736, Gene2Phenotype
CCDC88A is in 5 panels

5 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: Alison Callaway and John Taylor. Suggested gene rating: Amber.
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)

I don't know

insufficient families.Two consanguinous families identified with PEHO, PMID 26917597,30392057. Otherwise limited information.
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
?PEHO syndrome-like, 617507

Publications

Konstantinos Varvagiannis (Other)

I don't know

As suggested in previous reviews this gene should possibly remain amber based on PMID: 26917597 (3 individuals from a broader consanguineous pedigree, all homozygous for a nonsense variant shown to escape NMD but producing a severely truncated protein. Mouse knockout phenotype mimics the human).

PMID: 30392057 is probably a second report on the phenotype related to biallelic CCDC88A mutations. 2 sibs born to consanguineous parents from Saudi Arabia are described very briefly (epilepsy, ID, optic atrophy and pedal edema). Both sibs were homozygous for a novel truncating variant [c.1292G>A p.(Trp431*)].

NB. Apart from the poor phenotypic description the article has a few additional issues :
- The reference sequence is not mentioned but c.1292G>A would correspond to Trp431* whether NM_001135597/NM_018084/NM_001254943 is used [http://www.mutationtaster.org/cgi-bin/MutationTaster/MT_ChrPos.cgi?chromosome=2&position=55570825&ref=C&alt=T]. The sequence from the chromatograms provided maps only to CCDC88A and corresponds to the predicted amino acid change (using UCSC's Blat).
- The 3 additional variants in Table 1 (ref: Ekici et al. 2010) probably correspond to CCDC88C but not CCDC88A [correct reference for these variants : Ekici et al., 2010 - PMID: 21031079].

The corresponding phenotype in OMIM is # 617507 PEHO-like syndrome.
Created: 19 Nov 2018, 1:47 p.m.

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Insufficient evidence at present for gene to be green (13/11/2018)
Created: 13 Nov 2018, 10:27 a.m.

Zornitza Stark (Australian Genomics)

I don't know

Single family reported with three affected siblings with bi-allelic variants in this gene and early onset severe seizures. Mouse model provides supportive evidence, however does not meet criteria for Green.
Created: 10 Aug 2018, 4:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome-like, MIM#617507

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?PEHO syndrome-like 617507
Tags
watchlist
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CCDC88A.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CCDC88A.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Single family reported with th

29 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CCDC88A were set to 26917597

13 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ccdc88a has been classified as Amber List (Moderate Evidence).

13 Nov 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: CCDC88A.

13 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CCDC88A were changed from to ?PEHO syndrome-like 617507

13 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CCDC88A were set to

13 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CCDC88A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CCDC88A 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 CCDC88A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CCDC88A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CCDC88A was created by Sarah Leigh