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Gene: LRRC6

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Note alternative gene name DNAAF11
Created: 12 Dec 2024, 2:01 a.m. | Last Modified: 12 Dec 2024, 2:01 a.m.
Panel Version: 1.674
Comment when marking as ready: Note alternative gene name DNAAF11
Created: 12 Dec 2024, 2:01 a.m. | Last Modified: 12 Dec 2024, 2:01 a.m.
Panel Version: 1.674
Created: 12 Dec 2024, 2:01 a.m.
Last Modified: 12 Dec 2024, 2:01 a.m.
Panel version: 1.674

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Primary ciliary dyskinesia-19 (CILD19) is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus

HGNC approved symbol/name: DNAAF11
Is the phenotype(s) severe and onset <18yo? Y
Created: 12 Dec 2024, 12:41 a.m. | Last Modified: 12 Dec 2024, 12:41 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 19, MIM# 614935; MONDO:0013979

Publications

Created: 12 Dec 2024, 12:41 a.m.
Last Modified: 12 Dec 2024, 12:41 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935 (3)
OMIM
614930
Clinvar variants
Variants in LRRC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: lrrc6 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: lrrc6 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: LRRC6 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRRC6 was added gene: LRRC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)