Optic Atrophy
Gene: CCDC88A

CCDC88A (coiled-coil domain containing 88A)
EnsemblGeneIds (GRCh38): ENSG00000115355
EnsemblGeneIds (GRCh37): ENSG00000115355
OMIM: 609736, Gene2Phenotype
CCDC88A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Two families and a mouse model; only one family reported with OA.
Created: 9 Apr 2020, 6:37 a.m. | Last Modified: 9 Apr 2020, 6:37 a.m.

Panel Version: 0.29

Created: 9 Apr 2020, 6:37 a.m.
Last Modified: 9 Apr 2020, 6:37 a.m.
Panel version: 0.29

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 26917597 - 1 fam w/ moderate OA and a homozygous frameshift.
CCDC88A-null mice have NO optic atrophy
Described phenotype as PEHO-like if lacking OA or cerebellar hypoplasia

PMID: 28899015 - describes gene as causing PEHO-like disease. No new patients
PMID: 30392057 - 1 fam w/ homozygous nonsense. NO OA reported

AMBER - single report, animal model does NOT support the OA phenotype.
Created: 9 Apr 2020, 2:31 a.m. | Last Modified: 9 Apr 2020, 2:31 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?PEHO syndrome-like

Publications

Created: 9 Apr 2020, 2:31 a.m.
Last Modified: 9 Apr 2020, 2:31 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

PEHO syndrome-like, MIM#617507

OMIM

609736

Clinvar variants

Variants in CCDC88A

Penetrance

None

Publications

Panels with this gene