Polycystic liver 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 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease 7, MIM# 620056

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:35896117:
- Five unrelated families, including 23 affected individuals with non-enlarged cystic kidneys and few or no liver cysts, 8 of them reached end-stage kidney disease from 62 to 91 years of age. Variant confirmed in all but one individual.
- Various variant types: frameshift, nonsense, two missense, splice.
- Functional studies showed haploinsufficiency is the disease mechanism.
Sources: Literature
Created: 4 Aug 2022, 6:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline, few or no liver cysts.

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 7, MIM# 620056
  • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
OMIM
604565
Clinvar variants
Variants in ALG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Polycystic kidney disease 7, MIM# 620056; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg5 has been classified as Green List (High Evidence).

4 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG5 were changed from Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline

4 Aug 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: ALG5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg5 has been classified as Green List (High Evidence).

4 Aug 2022, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: ALG5 was added gene: ALG5 was added to Polycystic liver disease. Sources: Literature Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALG5 were set to 35896117 Phenotypes for gene: ALG5 were set to Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline Mode of pathogenicity for gene: ALG5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: ALG5 was set to GREEN gene: ALG5 was marked as current diagnostic