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| Ciliary Dyskinesia v1.49 | CFAP54 | Zornitza Stark Publications for gene: CFAP54 were set to PMID: 26224312; 36593121; 37725231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.48 | CFAP54 | Zornitza Stark Classified gene: CFAP54 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.48 | CFAP54 | Zornitza Stark Gene: cfap54 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.47 | CFAP54 | Zornitza Stark edited their review of gene: CFAP54: Added comment: PMID:39362668 reported four unrelated patients aged between 2 and 25 years old, three of whom were compound heterozygous and one homozygous for pathogenic variants in CFAP54. All reported chronic respiratory symptoms and all three patients for whom data was available had bronchiectasis. Two patients reported neonatal chest symptoms, one did not and data was missing for the other patient. No data were available on fertility status. In keeping with other C1d mutations they all had situs solitus and normal EM and HSVMA in those where data were available, but studies of in vitro ciliary transport performed in two subjects found that this was impaired in both.; Changed rating: GREEN; Changed publications: 36593121, 37725231, 39362668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.47 | CFAP54 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.46 | CFAP54 | Zornitza Stark Publications for gene: CFAP54 were set to PMID: 26224312; 36593121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.45 | CFAP54 | Zornitza Stark Classified gene: CFAP54 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.45 | CFAP54 | Zornitza Stark Gene: cfap54 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.44 | 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: 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, Ciliary dyskinesia, primary, 54, MIM# 621125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.44 | CFAP54 | Zornitza Stark Publications for gene: CFAP54 were set to PMID: 26224312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.43 | CFAP54 | Zornitza Stark edited their review of gene: CFAP54: Changed publications: 36593121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.43 | CFAP54 | Zornitza Stark Phenotypes for gene: CFAP54 were changed from Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.42 | CFAP54 | Zornitza Stark reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 98, MIM# 621124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.77 | CFAP54 | Zornitza Stark Marked gene: CFAP54 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.77 | CFAP54 | Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.77 | CFAP54 | Zornitza Stark Classified gene: CFAP54 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.77 | CFAP54 | Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | CFAP54 |
Elena Savva 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 Added comment: 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 |
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