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Mendeliome

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)

Two unrelated families reported and a mouse model.
Created: 4 Apr 2022, 6:53 a.m. | Last Modified: 4 Apr 2022, 6:53 a.m.
Panel Version: 0.12555

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 Green
  • Victorian Clinical Genetics Services
Phenotypes
  • PEHO syndrome-like, MIM# 617507
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

4 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CCDC88A were set to

4 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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

4 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC88A was added gene: CCDC88A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC88A was set to Unknown