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Mendeliome

Gene: CFAP69

Green List (high evidence)

CFAP69 (cilia and flagella associated protein 69)
EnsemblGeneIds (GRCh38): ENSG00000105792
EnsemblGeneIds (GRCh37): ENSG00000105792
CFAP69 is in 1 panel

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

> 3 unrelated males with phenotype
KO male mice demonstrated similar phenotypes to patients
Created: 20 Apr 2020, 5:28 a.m. | Last Modified: 20 Apr 2020, 5:28 a.m.
Panel Version: 0.2416

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asthenoteratospermia (Impaired sperm motility; severe flagellar abnormalities (short, coiled, absent or irregular calibre))

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Asthenoteratospermia (Impaired sperm motility
  • severe flagellar abnormalities (short, coiled, absent or irregular calibre))
Clinvar variants
Variants in CFAP69
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap69 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP69 were changed from to Asthenoteratospermia (Impaired sperm motility; severe flagellar abnormalities (short, coiled, absent or irregular calibre))

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFAP69 were set to

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CFAP69 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: CFAP69 was added gene: CFAP69 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFAP69 was set to Unknown