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  3. CCDC88A
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Microcephaly

Gene: CCDC88A

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30392057
- consanguineous Saudi family with 2 affecteds. Homozygous for a nonsense variant
- microcephaly, dev delay, ID, epilepsy, dysmorphism and brain atropy
- no measurements provided

PMID: 26917597
- consanguineous family with 3 affecteds. Homozygous fs variant
- infantile hypotonia, dev delay, optic and brain atrophy, seizures and microcephaly (measurements not provided)
- functional studies on KO mice
Sources: Literature
Created: 2 Sep 2020, 12:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome-like (MIM#617507)

Publications

Created: 2 Sep 2020, 12:40 a.m.

Panel version: 0.277

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PEHO syndrome-like (MIM#617507)
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc88a has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: CCDC88A was added gene: CCDC88A was added to Microcephaly. Sources: Literature Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC88A were set to 30392057; 26917597 Phenotypes for gene: CCDC88A were set to PEHO syndrome-like (MIM#617507) Penetrance for gene: CCDC88A were set to unknown Review for gene: CCDC88A was set to AMBER