Laterality disorders and isomerism

Gene: LRRC6

Added new-gene-name tag, new approved HGNC gene symbol for LRRC6 is DNAAF11

Created: 23 Feb 2021, 5:44 p.m. | Last Modified: 23 Feb 2021, 5:44 p.m.

Panel Version: 1.21

Green List (high evidence)

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

• 23891469
• 23122589

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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 given

Created: 5 Dec 2018, 12:52 p.m.