1. Panels
  2. Ciliary Dyskinesia
  3. CFAP74
STRs in panel
Prev Next
Regions in panel
Prev Next

Ciliary Dyskinesia

Gene: CFAP74

Amber List (moderate evidence)
CFAP74 (cilia and flagella associated protein 74)
EnsemblGeneIds (GRCh38): ENSG00000142609
EnsemblGeneIds (GRCh37): ENSG00000142609
CFAP74 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals with compound het missense variants reported.
Sources: Literature
Created: 6 Jul 2020, 8:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia; infertility

Publications

Created: 6 Jul 2020, 8:38 a.m.

Panel version: 0.117

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ciliary dyskinesia
  • infertility
Clinvar variants
Variants in CFAP74
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap74 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap74 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFAP74 was added gene: CFAP74 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP74 were set to 32555313 Phenotypes for gene: CFAP74 were set to Primary ciliary dyskinesia; infertility Review for gene: CFAP74 was set to AMBER