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DDG2P v3.12 | NPHP3 | Achchuthan Shanmugasundram reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19303681, 12872122; Phenotypes: NEPHRONOPHTHISIS TYPE 3, OMIM:604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.54 | NPHP3 |
Rebecca Foulger Source DD-Gene2Phenotype was added to NPHP3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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DDG2P v0.6 | NPHP3 | Rebecca Foulger Classified gene: NPHP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.6 | NPHP3 | Rebecca Foulger Added comment: Comment on list classification: Updated rating to Green: Rating should have been Green in original fileupload since Original DDG2P rating is confirmed for all 3 DDG2P disorders; MECKEL SYNDROME TYPE 7 267010, RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 and NEPHRONOPHTHISIS TYPE 3 604387. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.6 | NPHP3 | Rebecca Foulger Gene: nphp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | NPHP3 | Rebecca Foulger reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NPHP3 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 3 604387 for gene: NPHP3 Publications for gene NPHP3 were changed from to 19303681; 12872122 |
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DDG2P v0.1 | NPHP3 | Rebecca Foulger Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 for gene: NPHP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NPHP3 |
Rebecca Foulger gene: NPHP3 was added gene: NPHP3 was added to DDG2P. Sources: Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to MECKEL SYNDROME TYPE 7 267010 |