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Mendeliome v1.2409 CFAP54 Zornitza Stark Phenotypes for gene: CFAP54 were changed from Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation to Ciliary dyskinesia, primary, 54, MIM:621125; Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation
Mendeliome v1.2408 CFAP54 Zornitza Stark Publications for gene: CFAP54 were set to 26224312; 36593121
Mendeliome v1.2407 CFAP54 Zornitza Stark Classified gene: CFAP54 as Green List (high evidence)
Mendeliome v1.2407 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Green List (High Evidence).
Mendeliome v1.2400 CFAP54 Achchuthan Shanmugasundram reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 39362668; Phenotypes: Ciliary dyskinesia, primary, 54, OMIM:621125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2370 CFAP54 Zornitza Stark Classified gene: CFAP54 as Amber List (moderate evidence)
Mendeliome v1.2370 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2369 CFAP54 Zornitza Stark edited their review of gene: CFAP54: Added comment: PMID 37725231: three probands from two families with PCD, supportive mouse models x2.; Changed rating: AMBER; Changed publications: 26224312, 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, HCiliary dyskinesia, primary, 54, MIM# 621125
Mendeliome v1.2368 CFAP54 Zornitza Stark Marked gene: CFAP54 as ready
Mendeliome v1.2368 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence).
Mendeliome v1.2368 CFAP54 Zornitza Stark gene: CFAP54 was added
gene: CFAP54 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP54 were set to 26224312; 36593121
Phenotypes for gene: CFAP54 were set to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation
Review for gene: CFAP54 was set to RED
Added comment: PMID 36593121: Three men identified with bi-allelic variants and multiple morphologic abnormalities of the flagella or non-obstructive azoospermia.

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
Sources: Literature