| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Renal Macrocystic Disease v0.61 | ALG8 | Zornitza Stark Marked gene: ALG8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.61 | ALG8 | Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.58 | ALG8 | Chirag Patel Classified gene: ALG8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.58 | ALG8 | Chirag Patel Gene: alg8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.57 | ALG8 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.57 | ALG8 |
Chirag Patel edited their review of gene: ALG8: Added comment: Based on similar ALG genes, the CLINGEN review is discrepant to their review on other similar ALG genes with similar genetic and experimental evidence. Given patients present with PLD with kidney cysts, decision made that evidence is sufficient for PanelApp for classification as GREEN. CLINGEN assessed as LIMITED (2020) Monoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.; Changed rating: GREEN |
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| Renal Macrocystic Disease v0.54 | ALG8 |
Chirag Patel gene: ALG8 was added gene: ALG8 was added to Renal Macrocystic Disease. Sources: Expert Review Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALG8 were set to PMID: 28375157, 32457805 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 RED Added comment: CLINGEN assessed as LIMITED (2020) No further evidence since then for kidney cysts. Monoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. Sources: Expert Review |
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