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Intellectual disability

Gene: CCDC88A

Green List (high evidence)
CCDC88A (coiled-coil domain containing 88A)
EnsemblGeneIds (GRCh38): ENSG00000115355
EnsemblGeneIds (GRCh37): ENSG00000115355
OMIM: 609736, Gene2Phenotype
CCDC88A is in 6 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There are now at least 7 individuals from 4 unrelated families with biallelic variants in the CCDC88A gene (PMID: 26917597; 30392057; 37798908; 39334473), described to a PEHO-like syndrome with universal features including ID, epilepsy, microcephaly and optic nerve/cerebellar atrophy.

Sufficient unrelated cases with the same phenotype to promote this gene to green at the next GMS panel update.
Created: 6 Nov 2024, 4:24 p.m. | Last Modified: 6 Nov 2024, 4:24 p.m.
Panel Version: 8.14
Comment on list classification: This gene has been upgraded from Red to Amber based on the external reviews by Konstantinos Varvagiannis and Zornitza Stark.
Created: 3 Sep 2020, 4:50 p.m. | Last Modified: 3 Sep 2020, 4:50 p.m.
Panel Version: 3.284
Created: 3 Sep 2020, 4:50 p.m.
Last Modified: 3 Sep 2020, 4:50 p.m.
Panel version: 3.284

Konstantinos Varvagiannis (Other)

I don't know

As suggested in a previous review this gene can possibly be considered for upgrade to 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.

Overall this gene can be considered for upgrade to amber until further cases are published.
Created: 19 Nov 2018, 1:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?PEHO syndrome-like, 617507

Publications

Created: 19 Nov 2018, 1:42 p.m.

Panel version: 2.545

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families now plus mouse model.
Created: 1 Feb 2020, 12:55 a.m. | Last Modified: 1 Feb 2020, 12:55 a.m.
Panel Version: 3.0
Single family reported in the literature so far with functional evidence. Merits Amber status in anticipation of further cases being reported.
Created: 22 Jun 2018, 10:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome

Publications

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

Created: 22 Jun 2018, 10:22 a.m.

Panel version: 3.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • PEHO syndrome-like, OMIM:617507
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CCDC88A were set to 26917597; 30392057; 37798908; 39334473

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CCDC88A.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to CCDC88A. Source Expert Review Green was added to CCDC88A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Nov 2024, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CCDC88A were set to 26917597

6 Nov 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

6 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

6 Nov 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: CCDC88A.

3 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CCDC88A.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

CCDC88A was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

CCDC88A was created by Zornitza Stark