Respiratory ciliopathies including non-CF bronchiectasis
Gene: RSPH3
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: RSPH3; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Comment on list classification: REF 26073779: We identified non-ambiguous RSPH3 mutations in 5 of 48 independent families affected by CC/RS defects.Created: 10 May 2016, 9:53 a.m.
See Jeanson et al. Am J Hum Genet. 2015 Jul 2;97(1):153-62.Created: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 32, 616481
Variants in this GENE are reported as part of current diagnostic practice
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 32
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene RSPH3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Source Expert Review Green was added to RSPH3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RSPH3 was added gene: RSPH3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH3 was set to