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  3. ALG5
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Cystic kidney disease

Gene: ALG5

Green List (high evidence)
ALG5 (ALG5, dolichyl-phosphate beta-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000120697
EnsemblGeneIds (GRCh37): ENSG00000120697
OMIM: 604565, Gene2Phenotype
ALG5 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 10 Oct 2023, 5:25 p.m.
Last Modified: 10 Oct 2023, 5:25 p.m.
Panel version: 4.17

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 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

Created: 10 Mar 2023, 10:43 a.m.

Panel version: 3.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Polycystic kidney disease 7, OMIM:620056
OMIM
604565
Clinvar variants
Variants in ALG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: ALG5. Tag Q1_23_NHS_review was removed from gene: ALG5.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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)

10 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: alg5 has been classified as Amber List (Moderate Evidence).

10 Mar 2023, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

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