| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Heterotaxy v1.1 | FOXJ1 | Zornitza Stark Phenotypes for gene: FOXJ1 were changed from Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#618699; Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.0 | FOXJ1 | Zornitza Stark edited their review of gene: FOXJ1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.0 | FOXJ1 | Zornitza Stark reviewed gene: FOXJ1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 43, MIM#618699; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.47 | FOXJ1 | Zornitza Stark Marked gene: FOXJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.47 | FOXJ1 | Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.47 | FOXJ1 | Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.47 | FOXJ1 | Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.40 | FOXJ1 | Elena Savva Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.40 | FOXJ1 |
Elena Savva edited their review of gene: FOXJ1: Added comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients. Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity; Changed mode of pathogenicity: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.40 | FOXJ1 |
Elena Savva gene: FOXJ1 was added gene: FOXJ1 was added to Heterotaxy. Sources: Literature Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXJ1 were set to PMID 31630787 Phenotypes for gene: FOXJ1 were set to Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry Review for gene: FOXJ1 was set to GREEN Added comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients. Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||