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Mendeliome

Gene: CFAP206

Amber List (moderate evidence)

CFAP206 (cilia and flagella associated protein 206)
EnsemblGeneIds (GRCh38): ENSG00000272514
EnsemblGeneIds (GRCh37): ENSG00000272514
CFAP206 is in 1 panel

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

1x hom with a fs variant

Sperm from knockout mouse model mainly had a fagellum of normal length but most of them showed abnormal forms including bent and coiled fagella. There was also a significant increase of sperm cells with absent or short fagella compared to the WT mice.
Sources: Literature
Created: 6 Sep 2021, 5:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple morphological abnormalities of the fagella

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multiple morphological abnormalities of the flagella
Clinvar variants
Variants in CFAP206
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cfap206 has been classified as Amber List (Moderate Evidence).

6 Sep 2021, Gel status: 2

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: CFAP206 were set to

6 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cfap206 has been classified as Amber List (Moderate Evidence).

6 Sep 2021, Gel status: 0

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CFAP206 were changed from Multiple morphological abnormalities of the fagella to Multiple morphological abnormalities of the flagella

6 Sep 2021, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CFAP206 was added gene: CFAP206 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CFAP206 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFAP206 were set to Multiple morphological abnormalities of the fagella Penetrance for gene: CFAP206 were set to unknown Review for gene: CFAP206 was set to AMBER