Renal Macrocystic Disease
Gene: ALG5EnsemblGeneIds (GRCh38): ENSG00000120697
EnsemblGeneIds (GRCh37): ENSG00000120697
OMIM: 604565, Gene2Phenotype
ALG5 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 7, MIM# 620056
Chern Lim (Victorian Clinical Genetics Services)
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: LiteratureCreated: 4 Aug 2022, 6:31 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
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
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg5 has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chern Lim (Victorian Clinical Genetics Services)gene: ALG5 was added gene: ALG5 was added to Renal Macrocystic 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 Review for gene: ALG5 was set to GREEN gene: ALG5 was marked as current diagnostic