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| DDG2P v6.238 | LONP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LONP1 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LONP1 | Achchuthan Shanmugasundram edited their review of gene: LONP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LONP1-related CODAS syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 25574826, 25808063, 28148925, 29408517, 30997404, 31169704, 36684615, 36685982). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01139. The DDG2P confidence category, allelic requirement and molecular mechanism for LONP1-related congenital diaphragmatic hernia are limited, monoallelic_autosomal and loss of function (PMID:34547244). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03209.; Changed publications to: 29408517, 28148925, 30997404, 31169704, 36684615, 36685982, 25574826, 25808063, 34547244; Changed phenotypes to: MONDO:0010879, OMIM:600373.0, LONP1-associated congenital diaphragmatic hernia, MONDO:0005711, CODAS SYNDROME, OMIM:600373, LONP1-related CODAS syndrome, LONP1-related congenital diaphragmatic hernia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LONP1 | Achchuthan Shanmugasundram reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34547244, 25574826; Phenotypes: CODAS SYNDROME, OMIM:600373, LONP1-associated congenital diaphragmatic hernia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LONP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LONP1. Publications for gene: LONP1 were updated from 25574826 to 34547244; 25574826 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | LONP1 | Rebecca Foulger reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LONP1 |
Rebecca Foulger gene: LONP1 was added gene: LONP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to 25574826 Phenotypes for gene: LONP1 were set to CODAS SYNDROME 600373 Mode of pathogenicity for gene: LONP1 was set to Other - please provide details in the comments |
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