Laterality disorders and isomerism

Gene: LRRC56

Green List (high evidence)

LRRC56 (leucine rich repeat containing 56)
EnsemblGeneIds (GRCh38): ENSG00000161328
EnsemblGeneIds (GRCh37): ENSG00000161328
LRRC56 is in 5 panels

3 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Currently on CGGL Royal Brompton panel. no variants detected to date. Good but limited evidence in literature (single paper), with three unrelated families and functional model
Created: 25 Nov 2019, 11:01 p.m. | Last Modified: 25 Nov 2019, 11:01 p.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 618254 Ciliary dyskinesia, primary, 39

Publications

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

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Biallelic variants in three unrelated families and functional evidence of abnormal ciliary beat patterns and an absence of outer dynein arms in Trypanosoma brucei either null for LRRC56 or carrying a missense substitution analogous to the variant found in one of the patients.
Created: 18 Jan 2019, 9:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucociliary Clearance and Laterality Defect

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: added phenotypes
Created: 21 Jan 2019, 2:12 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: LRRC56; Suggested initial gene rating: Green; Evidence for inclusion: PCD-like phenotype w/laterality defects reported (Am J Hum Genet. 2018 Nov 1;103(5):727-739.); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 39, OMIM:618254
  • Ciliary dyskinesia, primary, 39, MONDO:0032637
  • Mucociliary Clearance and Laterality Defect
Clinvar variants
Variants in LRRC56
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defect to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637; Mucociliary Clearance and Laterality Defect

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defect

21 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: LRRC56 were changed from to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe

21 Jan 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: LRRC56 were set to

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to LRRC56. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LRRC56 was added gene: LRRC56 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: LRRC56 was set to