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Heterotaxy

Gene: CCDC65

Red List (low evidence)
CCDC65 (coiled-coil domain containing 65)
EnsemblGeneIds (GRCh38): ENSG00000139537
EnsemblGeneIds (GRCh37): ENSG00000139537
OMIM: 611088, Gene2Phenotype
CCDC65 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.

Situs inversus not reported.
Created: 3 May 2020, 10:46 p.m. | Last Modified: 30 Dec 2021, 9:52 a.m.
Panel Version: 1.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 27, MIM# 615504

Publications

Created: 3 May 2020, 10:46 p.m.
Last Modified: 30 Dec 2021, 9:52 a.m.
Panel version: 1.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 27, MIM# 615504
Tags
founder
OMIM
611088
Clinvar variants
Variants in CCDC65
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc65 has been classified as Red List (Low Evidence).

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc65 has been classified as Green List (High Evidence).

3 May 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: CCDC65.

3 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCDC65 were set to

3 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCDC65 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: CCDC65 was added gene: CCDC65 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC65 was set to Unknown