Hereditary systemic amyloidosis
Gene: LYZ
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 AppCreated: 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
Phenotypes for gene: LYZ were changed from 105200 to Amyloidosis, renal 105200
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