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| DDG2P v6.17 | LRPAP1 | Achchuthan Shanmugasundram edited their review of gene: LRPAP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LRPAP1-related myopia, extreme are definitive, biallelic_autosomal and loss of function (PMID:23830514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00056.; Changed rating: GREEN; Changed phenotypes to: MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431, EXTREME MYOPIA, MONDO:0014183, OMIM:615431.0, LRPAP1-related myopia, extreme | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | LRPAP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LRPAP1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | LRPAP1 | Achchuthan Shanmugasundram reviewed gene: LRPAP1: Rating: RED; Mode of pathogenicity: ; Publications: 23830514; Phenotypes: EXTREME MYOPIA, MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRPAP1 | Rebecca Foulger reviewed gene: LRPAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRPAP1 |
Rebecca Foulger gene: LRPAP1 was added gene: LRPAP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPAP1 were set to 23830514 Phenotypes for gene: LRPAP1 were set to MYOPIA 23, AUTOSOMAL RECESSIVE 615431; EXTREME MYOPIA |
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