Laterality disorders and isomerism
Gene: LRRC6Added new-gene-name tag, new approved HGNC gene symbol for LRRC6 is DNAAF11Created: 23 Feb 2021, 5:44 p.m. | Last Modified: 23 Feb 2021, 5:44 p.m.
Panel Version: 1.21
On CGGL Royal Brompton panel. Bi-allelic pathogenic variants detected in PCD patient. Good literature evidence.
LRRC6 is involved in dynein arm assembly during cilia biogenesis, and pathogenic variants cause autosomal recessive PCD. Loss of function is a known disease mechanism (Kott et al 2012 Am J Hum Genet 91(5):958-964)Created: 25 Nov 2019, 11:05 p.m. | Last Modified: 25 Nov 2019, 11:05 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 614935 Ciliary dyskinesia, primary, 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Tag new-gene-name tag was added to gene: LRRC6.
Phenotypes for gene: LRRC6 were changed from to Ciliary dyskinesia, primary, 19, 614935
Publications for gene: LRRC6 were set to
Mode of inheritance for gene: LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
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 Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: LRRC6 was set to