Amyloidosis

Gene: LYZ

Green List (high evidence)

LYZ (lysozyme)
EnsemblGeneIds (GRCh38): ENSG00000090382
EnsemblGeneIds (GRCh37): ENSG00000090382
OMIM: 153450, Gene2Phenotype
LYZ is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Associated with Amyloidosis, renal (#105200) in OMIM.

PMID: 21988333 - Sattianayagam et al 2012 - 16 Caucasian patients from 8 families with all with Lysozyme amyloidosis, except for asymptomatic patient. 12 patients were heterozygous for a mutation in the lysozyme gene that encodes the D67H variant, 2 cases carried the W64R variant and 1 case each carried the I56T and D67G variants.
Created: 13 Aug 2019, 4:30 p.m. | Last Modified: 13 Aug 2019, 4:30 p.m.
Panel Version: 0.7
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted: LYZ;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. Other Comments: Already on the Periodic Fever Syndrome App
Created: 2 Feb 2019, 3:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
105200

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, renal 105200
OMIM
153450
Clinvar variants
Variants in LYZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: LYZ were changed from 105200 to Amyloidosis, renal 105200

2 Feb 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: LYZ was added gene: LYZ was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LYZ were set to 21988333 Phenotypes for gene: LYZ were set to 105200