Respiratory ciliopathies including non-CF bronchiectasis
Gene: LRRC56
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: LRRC56; Suggested initial gene rating: Green; Evidence for inclusion: PCD-like phenotype w/laterality defects reported (Am J Hum Genet. 2018 Nov 1;103(5):727-739.); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given. Note the review below was transferred from a previous internal panel (Primary ciliary disorders panel version 0) when establishing this panel for the GMS, the review given predates this review by over 3 years.Created: 5 Dec 2018, 1:54 p.m.
See P119 in http://www.clingensoc.org/media/889387/bsgm_2014_-_programme_-17092014.pdfCreated: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ciliopathies
Variants in this GENE are reported as part of current diagnostic practice
Tag gene-checked tag was added to gene: LRRC56.
Phenotypes for gene: LRRC56 were changed from Ciliopathies to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637
Mode of inheritance for gene LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliopathies for gene: LRRC56
Publications for gene: LRRC56 were set to
Source Expert Review Green was added to LRRC56. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: LRRC56 was added gene: LRRC56 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: LRRC56 was set to