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Polycystic liver disease v1.8 LRP5 Zornitza Stark edited their review of gene: LRP5: Changed publications: 25920554, 24706814
Polycystic liver disease v1.8 Zornitza Stark HPO terms changed from to Polycystic liver disease, HP:0006557
List of related panels changed from to Polycystic liver disease; HP:0006557
Polycystic liver disease v1.7 SEC16B Zornitza Stark Marked gene: SEC16B as ready
Polycystic liver disease v1.7 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v1.7 SEC16B Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence)
Polycystic liver disease v1.7 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v1.6 SEC16B Zornitza Stark gene: SEC16B was added
gene: SEC16B was added to Polycystic liver disease. Sources: Expert Review
Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC16B were set to 28375157; 28862642; 30652979
Phenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Review for gene: SEC16B was set to AMBER
Added comment: Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen.
Sources: Expert Review
Polycystic liver disease v1.5 ALG5 Zornitza Stark 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
Polycystic liver disease v1.4 ALG5 Zornitza Stark reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polycystic liver disease v1.4 PKHD1 Elena Savva commented on gene: PKHD1
Polycystic liver disease v1.4 PKHD1 Elena Savva Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Polycystic liver disease v1.3 ALG5 Zornitza Stark Marked gene: ALG5 as ready
Polycystic liver disease v1.3 ALG5 Zornitza Stark Gene: alg5 has been classified as Green List (High Evidence).
Polycystic liver disease v1.3 ALG5 Zornitza Stark 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
Polycystic liver disease v1.2 ALG5 Zornitza Stark 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
Polycystic liver disease v1.1 ALG5 Zornitza Stark Classified gene: ALG5 as Green List (high evidence)
Polycystic liver disease v1.1 ALG5 Zornitza Stark Gene: alg5 has been classified as Green List (High Evidence).
Polycystic liver disease v1.0 ALG5 Chern Lim edited their review of gene: ALG5: Changed phenotypes: Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline, few or no liver cysts.
Polycystic liver disease v1.0 ALG5 Chern Lim 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
Added comment: 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
Polycystic liver disease v1.0 Bryony Thompson promoted panel to version 1.0
Polycystic liver disease v0.28 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Polycystic liver disease v0.27 PRKCSH Zornitza Stark commented on gene: PRKCSH: Well established gene-disease association.
Polycystic liver disease v0.27 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Polycystic liver disease v0.27 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease (618061); Ivermark II syndrome
Polycystic liver disease v0.26 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351
Polycystic liver disease v0.25 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Polycystic liver disease v0.24 DNAJB11 Zornitza Stark Deleted their comment
Polycystic liver disease v0.24 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.

Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease (618061), Ivermark II syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polycystic liver disease v0.23 SEC61B Zornitza Stark edited their review of gene: SEC61B: Changed publications: 28862642, 30652979, 28375157
Polycystic liver disease v0.23 SEC61B Zornitza Stark changed review comment from: Sources: Expert list; to: Two unrelated individuals reported.Sources: Expert list
Polycystic liver disease v0.23 SEC61B Zornitza Stark Publications for gene: SEC61B were set to 28862642; 30652979
Polycystic liver disease v0.22 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.22 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.21 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.20 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.20 ALG9 Zornitza Stark Classified gene: ALG9 as Amber List (moderate evidence)
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.19 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG9 were set to 31395617; 30652979
Phenotypes for gene: ALG9 were set to Polycystic liver and kidney disease
Review for gene: ALG9 was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.18 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.18 SEC63 Zornitza Stark Classified gene: SEC63 as Green List (high evidence)
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.17 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
Review for gene: SEC63 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Classified gene: PRKCSH as Green List (high evidence)
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.15 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Review for gene: PRKCSH was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Classified gene: PKHD1 as Green List (high evidence)
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.13 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Review for gene: PKHD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.12 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.12 PKD2 Zornitza Stark Classified gene: PKD2 as Green List (high evidence)
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.11 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 29321346
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Review for gene: PKD2 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.10 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.10 PKD1 Zornitza Stark Classified gene: PKD1 as Green List (high evidence)
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.9 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD1 were set to 8554072; 3178424; 9211343
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Review for gene: PKD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.8 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.8 LRP5 Zornitza Stark Classified gene: LRP5 as Green List (high evidence)
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.7 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP5 were set to 25920554
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Review for gene: LRP5 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.6 GANAB Zornitza Stark Marked gene: GANAB as ready
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.6 GANAB Zornitza Stark Classified gene: GANAB as Green List (high evidence)
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.5 GANAB Zornitza Stark gene: GANAB was added
gene: GANAB was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GANAB were set to 29243290; 27259053; 28862642
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Review for gene: GANAB was set to GREEN
Added comment: Multiple liver cysts are a feature of this condition.
Sources: Expert list
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Marked gene: DNAJB11 as ready
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Classified gene: DNAJB11 as Green List (high evidence)
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 DNAJB11 Zornitza Stark gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Review for gene: DNAJB11 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.2 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.2 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.1 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG8 were set to 28375157; 15235028
Phenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Review for gene: ALG8 was set to GREEN
gene: ALG8 was marked as current diagnostic
Added comment: Sources: Expert list
Polycystic liver disease v0.0 Zornitza Stark Added Panel Polycystic liver disease
Set panel types to: Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease