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DDG2P

Gene: LRRC56

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Curated updates to DD-G2P from March 2019 for 'Mucociliary Clearance and Laterality Defects'. Allelic requirement is now biallelic. Mutation consequence is now 'loss of function'. The Disease confidence rating remains as probable.
Created: 19 Apr 2019, 3:03 p.m.
Comment on mode of inheritance: Added biallelic MOI to reflect the updated MOI in DD-G2P for Mucociliary Clearance and Laterality Defects (previously the MOI was missing).
Created: 19 Apr 2019, 3:02 p.m.
New gene:disorder association added to DDG2P on 26/11/2018: Mucociliary Clearance and Laterality Defects. Original DDG2P rating for Mucociliary Clearance and Laterality Defects: probable. No MOI listed in DDG2P for Mucociliary Clearance and Laterality Defect. No MOP listed in DDG2P for Mucociliary Clearance and Laterality Defect.
Created: 6 Dec 2018, 11:01 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Mucociliary Clearance and Laterality Defects
Clinvar variants
Variants in LRRC56
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2019, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

19 Apr 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: LRRC56 were set to

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: New gene:disorder association

6 Dec 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: LRRC56 was added gene: LRRC56 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRRC56 was set to Phenotypes for gene: LRRC56 were set to Mucociliary Clearance and Laterality Defects