Ciliary Dyskinesia
Gene: CFAP54
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
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: LiteratureCreated: 25 May 2020, 1:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus, male infertility, mucus accumulation
Publications
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
Publications for gene: CFAP54 were set to PMID: 26224312; 36593121
Gene: cfap54 has been classified as Amber List (Moderate Evidence).
Publications for gene: CFAP54 were set to PMID: 26224312
Phenotypes for gene: CFAP54 were changed from Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation
Gene: cfap54 has been classified as Red List (Low Evidence).
Gene: cfap54 has been classified as Red List (Low Evidence).
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