| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1000 | CFAP57 | Zornitza Stark Marked gene: CFAP57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1000 | CFAP57 | Zornitza Stark Gene: cfap57 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.996 | CFAP57 | Zornitza Stark Classified gene: CFAP57 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.996 | CFAP57 | Zornitza Stark Gene: cfap57 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | CFAP57 |
Krithika Murali gene: CFAP57 was added gene: CFAP57 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CFAP57 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFAP57 were set to 21574244; 32764743 Phenotypes for gene: CFAP57 were set to Van der Woude syndrome; primary ciliary dyskinesia like Review for gene: CFAP57 was set to RED Added comment: Homozygous nonsense variants identified in a 38-year-old male with PCD phenotype (history of neonatal respiratory distress, otitis media, sinusitis and bronchiectasis) x1 Het VUS reported in an individual with van der Woude syndrome - reviewed ClinVar - remains classified as VUS Sources: Literature |
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