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Fetal anomalies

Gene: CCDC88A

Amber List (moderate 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)

I don't know

PMID: 26917597;
1x family with 3 affecteds microcephaly (birth OFC -3 - -4 SD)

total of 2 consanguineous families with 5 affecteds and functional studies of KO mice
Sources: Literature
Created: 28 Feb 2022, 2 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome-like (MIM#617507)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • PEHO syndrome-like (MIM#617507)
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, 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).

28 Feb 2022, 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).

28 Feb 2022, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CCDC88A was added gene: CCDC88A was added to Fetal anomalies. 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) Review for gene: CCDC88A was set to AMBER gene: CCDC88A was marked as current diagnostic