Primary ciliary disorders
Gene: LRRC6

LRRC6 (leucine rich repeat containing 6)
EnsemblGeneIds (GRCh38): ENSG00000129295
EnsemblGeneIds (GRCh37): ENSG00000129295
OMIM: 614930, Gene2Phenotype
LRRC6 is in 8 panels

3 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for LRRC6 is DNAAF11
Created: 23 Feb 2021, 5:43 p.m. | Last Modified: 23 Feb 2021, 5:43 p.m.

Panel Version: 1.29

Created: 23 Feb 2021, 5:43 p.m.
Last Modified: 23 Feb 2021, 5:43 p.m.
Panel version: 1.29

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

UK mutations reported
Created: 8 Dec 2015, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 19

Publications

PMID:23122589

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

Created: 8 Dec 2015, 4:25 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Primary Ciliary Dyskinesia
Ciliary dyskinesia, primary, 19, 614935

Tags

new-gene-name

OMIM

614930

Clinvar variants

Variants in LRRC6

Penetrance

Complete

Panels with this gene

History Filter Activity

23 Feb 2021, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: LRRC6.

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Jul 2015, Gel status: 3