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Heterotaxy v0.105 LRRC56 Zornitza Stark Marked gene: LRRC56 as ready
Heterotaxy v0.105 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Heterotaxy v0.105 LRRC56 Zornitza Stark Classified gene: LRRC56 as Green List (high evidence)
Heterotaxy v0.105 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Heterotaxy v0.103 LRRC56 Elena Savva gene: LRRC56 was added
gene: LRRC56 was added to Heterotaxy. 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 - 3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). All patients had dextrocardia, atrial situs inversus and abdominal/thoracic situs inversus
Sources: Expert list