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  3. CCNO
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Heterotaxy

Gene: CCNO

Red List (low evidence)
CCNO (cyclin O)
EnsemblGeneIds (GRCh38): ENSG00000152669
EnsemblGeneIds (GRCh37): ENSG00000152669
OMIM: 607752, Gene2Phenotype
CCNO is in 6 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

OMIM specifically states NO situs inversus

PMID: 24747639 - observed 16 patients from 10 families, none had situs inversus

PMID: 24824133 - Irish traveller cohort, 1 family found with a mutation (2 affecteds) specifically noted to NOT have situs inversus.

PMID: 31765523 - 4 unrelated patients, 0/4 had situs inversus totalis.
Created: 31 May 2020, 11:46 p.m. | Last Modified: 31 May 2020, 11:46 p.m.
Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 29 615872

Publications

Created: 31 May 2020, 11:46 p.m.
Last Modified: 31 May 2020, 11:46 p.m.
Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 29, MIM# 615872
OMIM
607752
Clinvar variants
Variants in CCNO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccno has been classified as Red List (Low Evidence).

1 Jun 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCNO were changed from to Ciliary dyskinesia, primary, 29, MIM# 615872

1 Jun 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCNO were set to

1 Jun 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccno has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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