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| Renal Macrocystic Disease v0.63 | SEC16B | Zornitza Stark Marked gene: SEC16B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.63 | SEC16B | Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.63 | SEC16B | Zornitza Stark Phenotypes for gene: SEC16B were changed from Polycystic liver disease with or without renal cysts, no OMIM # to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.62 | SEC16B | Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.62 | SEC16B | Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.61 | SEC16B | Zornitza Stark reviewed gene: SEC16B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.55 | SEC16B |
Chirag Patel gene: SEC16B was added gene: SEC16B was added to Renal Macrocystic 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 PMID: 28375157, 28862642, 30652979 Phenotypes for gene: SEC16B were set to Polycystic liver disease with or without renal cysts, no OMIM # Review for gene: SEC16B was set to RED Added comment: CLINGEN assessed as LIMITED (2020) No further evidence since for kidney cysts SEC61B was first reported in relation to autosomal dominant polycystic liver disease in 2017 (Besse et al., PMID:28375157). At least 2 variants (frameshift, start-loss) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 2 probands in 1 publication (PMID:28375157). This gene-disease association is supported by in vitro functional assays. 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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