Laterality disorders and isomerism
Gene: LRRC56
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 modelCreated: 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
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
Comment on phenotypes: added phenotypesCreated: 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 givenCreated: 5 Dec 2018, 12:52 p.m.
Tag gene-checked tag was added to gene: LRRC56.
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
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
Phenotypes for gene: LRRC56 were changed from to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe
Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC56 were set to
Source Expert Review Green was added to LRRC56. Rating Changed from Red List (low evidence) to Green List (high evidence)
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