1. Panels
  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. LRRC56
STRs in panel
Prev Next
Regions in panel
Prev Next

Respiratory ciliopathies including non-CF bronchiectasis

Gene: LRRC56

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

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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. Note the review below was transferred from a previous internal panel (Primary ciliary disorders panel version 0) when establishing this panel for the GMS, the review given predates this review by over 3 years.
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

See P119 in http://www.clingensoc.org/media/889387/bsgm_2014_-_programme_-17092014.pdf
Created: 8 Dec 2015, 5:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathies

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

Created: 8 Dec 2015, 5:33 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

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
Tags
gene-checked
Clinvar variants
Variants in LRRC56
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: LRRC56.

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LRRC56 were changed from Ciliopathies to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

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 Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: LRRC56 was set to