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Heterotaxy
Gene: CCDC114

CCDC114 (coiled-coil domain containing 114)
EnsemblGeneIds (GRCh38): ENSG00000105479
EnsemblGeneIds (GRCh37): ENSG00000105479
OMIM: 615038, Gene2Phenotype
CCDC114 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported. Situs inversus is variable.
Created: 16 Oct 2020, 11:50 p.m. | Last Modified: 16 Oct 2020, 11:50 p.m.

Panel Version: 0.115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 20, MIM# 615067

Publications

Created: 16 Oct 2020, 11:50 p.m.
Last Modified: 16 Oct 2020, 11:50 p.m.
Panel version: 0.115

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 20, MIM# 615067

Tags

new gene name

OMIM

Clinvar variants

Variants in CCDC114

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 May 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: CCDC114.

16 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc114 has been classified as Green List (High Evidence).

16 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, MIM# 615067

16 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCDC114 were set to

16 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCDC114 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

16 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCDC114 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: CCDC114 was added gene: CCDC114 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC114 was set to Unknown