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| DDG2P v6.335 | SEC61A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEC61A1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SEC61A1 | Achchuthan Shanmugasundram edited their review of gene: SEC61A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEC61A1-related tubulo-interstitial and glomerulocystic kidney disease with anemia are limited, monoallelic_autosomal and undetermined (PMIDs: 27392076, 33185949, 39976632). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01752.; Changed publications to: 39976632, 27392076, 33185949; Changed phenotypes to: SEC61A1-related tubulo-interstitial and glomerulocystic kidney disease with anemia, Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia, MONDO:0100337, OMIM:617056.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC61A1 | Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SEC61A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC61A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SEC61A1 | Rebecca Foulger reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SEC61A1 |
Rebecca Foulger gene: SEC61A1 was added gene: SEC61A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC61A1 were set to Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Mode of pathogenicity for gene: SEC61A1 was set to Other - please provide details in the comments |
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