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Fetal anomalies

Gene: CFAP74

Red List (low evidence)

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Compound het missense variants identified in 2 unrelated patients presenting with male infertility, chronic bronchiectasis and frequent sinusitis.
Sources: Literature
Created: 6 Dec 2021, 12:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infertility; primary ciliary dyskinesia

Publications

Details

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

History Filter Activity

3 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap74 has been classified as Red List (Low Evidence).

3 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap74 has been classified as Red List (Low Evidence).

6 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CFAP74 was added gene: CFAP74 was added to Fetal anomalies. 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 infertility; primary ciliary dyskinesia Review for gene: CFAP74 was set to RED