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| Ciliary Dyskinesia v0.76 | LRRC56 | Zornitza Stark Marked gene: LRRC56 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | LRRC56 | Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | LRRC56 | Zornitza Stark Classified gene: LRRC56 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | LRRC56 | Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.75 | LRRC56 |
Elena Savva gene: LRRC56 was added gene: LRRC56 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC56 were set to PMID: 30388400 Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 618254 Review for gene: LRRC56 was set to GREEN Added comment: PMID: 30388400 - PMID: 30388400 - used protist null model to show abnormal ciliary beatings, replicated the phenotype when the protist was transfected with mutant allele observed in a patient. 3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). Patients exhibited phenotypes including chronic respiratory/ear infections, situs inversus Sources: Expert list |
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