Primary ciliary disorders

Gene: LRRC6

Green List (high evidence)

LRRC6 (leucine rich repeat containing 6)
EnsemblGeneIds (GRCh38): ENSG00000129295
EnsemblGeneIds (GRCh37): ENSG00000129295
OMIM: 614930, Gene2Phenotype
LRRC6 is in 9 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

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

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

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

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

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LRRC6 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LRRC6 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LRRC6 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LRRC6 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LRRC6 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN