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  3. CFAP54
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Ciliary Dyskinesia

Gene: CFAP54

Red List (low evidence)
CFAP54 (cilia and flagella associated protein 54)
EnsemblGeneIds (GRCh38): ENSG00000188596
EnsemblGeneIds (GRCh37): ENSG00000188596
CFAP54 is in 1 panel

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 26224312: Homozygous mice have PCD characterized by hydrocephalus, male infertility (spermatogenesis defects in flagella maturation), and mucus accumulation. Brain analysis showed mild dilatation of the lateral ventricles. Tracheal cilia beat frequency was significantly reduced. The gene was highest expressed in the testis and lungs

No patients reported as of yet
Sources: Literature
Created: 25 May 2020, 1:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, male infertility, mucus accumulation

Publications

Created: 25 May 2020, 1:32 a.m.

Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hydrocephalus, male infertility, mucus accumulation
Clinvar variants
Variants in CFAP54
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap54 has been classified as Red List (Low Evidence).

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap54 has been classified as Red List (Low Evidence).

25 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CFAP54 was added gene: CFAP54 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: CFAP54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP54 were set to PMID: 26224312 Phenotypes for gene: CFAP54 were set to Hydrocephalus, male infertility, mucus accumulation Review for gene: CFAP54 was set to RED