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Intellectual disability

Gene: CCDC88A

Red List (low evidence)

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

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • PEHO syndrome
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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