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Heterotaxy

Gene: CCDC103

Green List (high evidence)
CCDC103 (coiled-coil domain containing 103)
EnsemblGeneIds (GRCh38): ENSG00000167131
EnsemblGeneIds (GRCh37): ENSG00000167131
OMIM: 614677, Gene2Phenotype
CCDC103 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Outer dyne arm assembly factor. Variable situs inversus. More than 20 families reported. The p.His154Pro variant is a common founder variant in the South Asian population.
Created: 16 Oct 2020, 11:38 p.m. | Last Modified: 16 Oct 2020, 11:38 p.m.
Panel Version: 0.112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 17, MIM# 614679

Publications

Created: 16 Oct 2020, 11:38 p.m.
Last Modified: 16 Oct 2020, 11:38 p.m.
Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 17, MIM# 614679
Tags
founder
OMIM
614677
Clinvar variants
Variants in CCDC103
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc103 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: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, MIM# 614679

16 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCDC103 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: CCDC103 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

16 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: CCDC103.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC103 was added gene: CCDC103 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC103 was set to Unknown