Respiratory ciliopathies including non-CF bronchiectasis
Gene: LRRC6Added new-gene-name tag, new approved HGNC gene symbol for LRRC6 is DNAAF11Created: 23 Feb 2021, 5:45 p.m. | Last Modified: 23 Feb 2021, 5:45 p.m.
Panel Version: 1.43
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: LRRC6; 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
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 19, 614935
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, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: LRRC6.
Mode of inheritance for gene LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 19, 614935; Primary Ciliary Dyskinesia for gene: LRRC6
Source Expert Review Green was added to LRRC6. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: LRRC6 was added gene: LRRC6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: LRRC6 was set to