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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported.
Created: 18 Oct 2020, 10 a.m. | Last Modified: 18 Oct 2020, 10 a.m.
Panel Version: 0.5026

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 19, MIM# 614935

Publications

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

History Filter Activity

18 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRRC6 were changed from to Ciliary dyskinesia, primary, 19, MIM# 614935

18 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRRC6 were set to

18 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRRC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRRC6 was added gene: LRRC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRRC6 was set to Unknown