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  3. CCDC151
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Heterotaxy

Gene: CCDC151

Green List (high evidence)
CCDC151 (coiled-coil domain containing 151)
EnsemblGeneIds (GRCh38): ENSG00000198003
EnsemblGeneIds (GRCh37): ENSG00000198003
OMIM: 615956, Gene2Phenotype
CCDC151 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 7 unrelated families reported and a mouse model, variable laterality defects.
Created: 17 Oct 2020, 12:25 a.m. | Last Modified: 17 Oct 2020, 12:25 a.m.
Panel Version: 0.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 30, MIM# 616037

Publications

Created: 17 Oct 2020, 12:25 a.m.
Last Modified: 17 Oct 2020, 12:25 a.m.
Panel version: 0.119

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 30, MIM# 616037
Tags
new gene name
OMIM
615956
Clinvar variants
Variants in CCDC151
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: CCDC151.

17 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc151 has been classified as Green List (High Evidence).

17 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, MIM# 616037

17 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCDC151 were set to

17 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCDC151 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: CCDC151 was added gene: CCDC151 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC151 was set to Unknown