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| Polycystic liver disease v1.18 | ALG9 | Ivone Leong Phenotypes for gene: ALG9 were changed from ADPKD; PCLD to autosomal dominant polycystic kidney disease, MONDO:0004691; PCLD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.8 | ALG9 | Ivone Leong Classified gene: ALG9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.8 | ALG9 | Ivone Leong Gene: alg9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.7 | ALG9 | Ivone Leong Publications for gene: ALG9 were set to PMID: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.6 | ALG9 |
Miranda Durkie gene: ALG9 was added gene: ALG9 was added to Polycystic liver disease interim. Sources: Literature Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG9 were set to PMID: Phenotypes for gene: ALG9 were set to ADPKD; PCLD Penetrance for gene: ALG9 were set to unknown Review for gene: ALG9 was set to AMBER Added comment: Besse et al (2019) identified 2 LOF pathogenic variants in this candidate gene in a cohort of 122 patients with genetically unresolved ADPKD or PCLD. 1 patient with ADPKD and 1 patient with PCLD (immunerable liver cysts and 7:11 L:R kidney cysts). In vitro cell-based assays used to validate ALG9 loss causing abnormal biogenesis of PC1. They identified further LOF pathogenic variants in 14 additional cases from large population-based cohort where EHR data available. Only 1 of these 14 had liver cysts; partially imaged with 2 cysts (up to 1.1cm) and 4 "too small to characterise" lesions as well as 39 kidney cysts (liver ultrasound data not available for 2/14). Therefore appears to be predominantly polycystic kidney disease gene (though a mild presentation). However finding in 1 patient with classic PCLD may be similar to other genes in pathway where presentation between ADPKD and PCLD is variable. Need further cases before updating rating. Sources: Literature |
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