Ciliary Dyskinesia
Gene: LRRC6

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

New HGNC Approved gene name - DNAAF11 (HGNC:16725)
Created: 5 May 2024, 11:55 p.m. | Last Modified: 5 May 2024, 11:55 p.m.

Panel Version: 1.39

Publications

https://search.clinicalgenome.org/CCID:004663

Created: 5 May 2024, 11:55 p.m.
Last Modified: 5 May 2024, 11:55 p.m.
Panel version: 1.39

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported.
Created: 18 Oct 2020, 9:57 a.m. | Last Modified: 18 Oct 2020, 9:57 a.m.

Panel Version: 0.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 19, MIM# 614935

Publications

Created: 18 Oct 2020, 9:57 a.m.
Last Modified: 18 Oct 2020, 9:57 a.m.
Panel version: 0.178

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 19, MIM# 614935

OMIM

614930

Clinvar variants

Variants in LRRC6

Penetrance

None

Publications

Panels with this gene