Cystic kidney disease
Gene: ALG5
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:25 p.m. | Last Modified: 10 Oct 2023, 5:25 p.m.
Panel Version: 4.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.Created: 10 Mar 2023, 10:44 a.m. | Last Modified: 10 Mar 2023, 10:44 a.m.
Panel Version: 3.9
New gene suggested for this panel by Prof John Sayer (Newcastle Hospitals NHS Foundation Trust). Associated with a relevant phenotype in OMIM (MIM# 620056) but is not yet listed in G2P.
Lemoine et al., 2022 (PMID: 35896117) reported 19 patients from 5 unrelated families with adult-onset polycystic kidney disease and monoallelic variants in this gene. Affected individuals had non-enlarged cystic kidneys and few or no liver cysts, and some patients reached end-stage kidney disease from 62 to 91 years of age.
Sources: LiteratureCreated: 10 Mar 2023, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 7, OMIM:620056
Publications
Tag Q1_23_promote_green was removed from gene: ALG5. Tag Q1_23_NHS_review was removed from gene: ALG5.
Source Expert Review Green was added to ALG5. Source NHS GMS was added to ALG5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: alg5 has been classified as Amber List (Moderate Evidence).
gene: ALG5 was added gene: ALG5 was added to Cystic kidney disease. Sources: Literature Q1_23_promote_green, Q1_23_NHS_review tags were added to gene: ALG5. Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG5 were set to 35896117 Phenotypes for gene: ALG5 were set to Polycystic kidney disease 7, OMIM:620056 Review for gene: ALG5 was set to GREEN