Laterality disorders and isomerism

Gene: LRRC56

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

• 30388400

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

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

• PMID:30388400

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.