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| Mendeliome v0.13294 | CFP | Ain Roesley Marked gene: CFP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13294 | CFP | Ain Roesley Gene: cfp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13294 | CFP | Ain Roesley Phenotypes for gene: CFP were changed from to Properdin deficiency, X-linked MIM#312060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13293 | CFP | Ain Roesley Publications for gene: CFP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13293 | CFP | Ain Roesley Mode of inheritance for gene: CFP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13292 | CFP | Ain Roesley reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 8871668, 10909851, 22229731, 9476131, 10698340, 10540191, 16511390, 19328743; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2624 | MEPE |
Zornitza Stark gene: MEPE was added gene: MEPE was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MEPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEPE were set to 30287925 Phenotypes for gene: MEPE were set to hereditary congenital facial paresis; otosclerosis Review for gene: MEPE was set to AMBER Added comment: Single four-generation family reported with variant in this gene segregating nonprogressive HCFP and mixed hearing loss (HL). Damaging variants (truncating/frameshift) found to be enriched in otosclerosis cohort (p = 0.0006–0.0060). Sources: Literature |
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| Mendeliome v0.0 | CFP |
Zornitza Stark gene: CFP was added gene: CFP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFP was set to Unknown |
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