Ciliary Dyskinesia

Gene: CFAP54

Amber List (moderate evidence)

CFAP54 (cilia and flagella associated protein 54)
EnsemblGeneIds (GRCh38): ENSG00000188596
EnsemblGeneIds (GRCh37): ENSG00000188596
CFAP54 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 37725231: three probands from two families with PCD, supportive mouse models x2.
Created: 14 Mar 2025, 4:10 a.m. | Last Modified: 14 Mar 2025, 4:10 a.m.
Panel Version: 1.44
Three men identified with bi-allelic variants and multiple morphologic abnormalities of the flagella or nonobstructive azoospermia.
Created: 12 Mar 2025, 8:09 p.m. | Last Modified: 12 Mar 2025, 8:09 p.m.
Panel Version: 1.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 98, MIM# 621124; Ciliary dyskinesia, primary, 54, MIM# 621125

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spermatogenic failure 98, MIM# 621124
  • Ciliary dyskinesia, primary, 54, MIM# 621125
Clinvar variants
Variants in CFAP54
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP54 were changed from Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Ciliary dyskinesia, primary, 54, MIM# 621125

14 Mar 2025, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFAP54 were set to PMID: 26224312; 36593121

14 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap54 has been classified as Amber List (Moderate Evidence).

12 Mar 2025, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFAP54 were set to PMID: 26224312

12 Mar 2025, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP54 were changed from Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation

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