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  2. Ciliary Dyskinesia
  3. LRRC56
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Ciliary Dyskinesia

Gene: LRRC56

Green List (high evidence)
LRRC56 (leucine rich repeat containing 56)
EnsemblGeneIds (GRCh38): ENSG00000161328
EnsemblGeneIds (GRCh37): ENSG00000161328
LRRC56 is in 4 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30388400 - PMID: 30388400 - used protist null model to show abnormal ciliary beatings, replicated the phenotype when the protist was transfected with mutant allele observed in a patient.
3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). Patients exhibited phenotypes including chronic respiratory/ear infections, situs inversus
Sources: Expert list
Created: 12 May 2020, 11:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 39 618254

Publications

Created: 12 May 2020, 11:10 p.m.

Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 39 618254
Clinvar variants
Variants in LRRC56
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc56 has been classified as Green List (High Evidence).

14 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc56 has been classified as Green List (High Evidence).

12 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: LRRC56 was added gene: LRRC56 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC56 were set to PMID: 30388400 Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 618254 Review for gene: LRRC56 was set to GREEN