Respiratory ciliopathies including non-CF bronchiectasis
Gene: RSPH1
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: RSPH1; 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 24, 615481
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: 2 expert reviewers agree and current diagnosticCreated: 10 May 2016, 9:05 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 24
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene RSPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Source Expert Review Green was added to RSPH1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RSPH1 was added gene: RSPH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH1 was set to