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| Ciliary Dyskinesia v0.125 | CFAP57 | Zornitza Stark Phenotypes for gene: CFAP57 were changed from to Van der Woude Syndrome; Primary ciliary dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.124 | CFAP57 | Zornitza Stark Publications for gene: CFAP57 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.123 | CFAP57 |
Elena Savva edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided. PMID: 21574244 - patient with a heterozygous missense and Van der Woude Syndrome. Classed in OMIM as a VUS. PMID: 32764743 - one homozygous patient p.(Arg588*) w/ PCD - variant results in the skipping of exon 11 (58 amino acids), which may be due to disruption of an exonic splicing enhancer. Functional studies on Chlamydomonas animal model is defective. Potentially the same patient as bioRxiv; Changed publications: PMID: 21574244, 32764743 |
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| Ciliary Dyskinesia v0.76 | CFAP57 | Elena Savva reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21574244; Phenotypes: Van der Woude Syndrome, Primary ciliary dyskinesia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Marked gene: CFAP57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Classified gene: CFAP57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.1 | CFAP57 | Sebastian Lunke edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.; Changed publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.1 | CFAP57 |
Sebastian Lunke gene: CFAP57 was added gene: CFAP57 was added to Ciliary dyskinesia_VCGS. Sources: Literature Mode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: CFAP57 was set to AMBER Added comment: Sources: Literature |
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