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| DDG2P v3.40 | COL2A1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: COL2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL2A1 | Achchuthan Shanmugasundram reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14729840, 2339128, 3195588, 8723097, 1429602, 8325895, 15054848, 7849719, 7829510, 26443184, 2543071, 16088915, 8486375, 26626311, 8423604, 15671297, 26358419, 7757081, 7550321, 16752401, 1374906, 17721977, 7981752, 25060605, 7874117, 15316962; Phenotypes: ACHONDROGENESIS TYPE 2, OMIM:200610, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508, KNIEST DYSPLASIA, OMIM:156550, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL2A1 | Achchuthan Shanmugasundram Publications for gene: COL2A1 were updated from 8325895; 2339128; 8423604; 2543071 to 14729840; 2339128; 3195588; 8723097; 1429602; 8325895; 15054848; 7849719; 7829510; 26443184; 2543071; 16088915; 8486375; 26626311; 8423604; 15671297; 26358419; 7757081; 7550321; 16752401; 1374906; 17721977; 7981752; 25060605; 7874117; 15316962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.62 | COL2A1 | Rebecca Foulger Classified gene: COL2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.62 | COL2A1 | Rebecca Foulger Gene: col2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | COL2A1 | Rebecca Foulger edited their review of gene: COL2A1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ACHONDROGENESIS TYPE 2; KNIEST DYSPLASIA; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | COL2A1 | Rebecca Foulger Tag watchlist tag was added to gene: COL2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | COL2A1 | Rebecca Foulger commented on gene: COL2A1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL2A1 | Rebecca Foulger reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900 for gene: COL2A1 Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8325895; 2339128; 8423604; 2543071 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 for gene: COL2A1 Publications for gene COL2A1 were changed from 7550321; 8486375; 16088915 to 16752401; 17721977; 15671297 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250 for gene: COL2A1 Publications for gene COL2A1 were changed from 21671384; 15930420 to 7550321; 8486375; 16088915 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 for gene: COL2A1 Publications for gene COL2A1 were changed from 8723097; 15316962 to 21671384; 15930420 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes SPONDYLOPERIPHERAL DYSPLASIA 271700 for gene: COL2A1 Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8723097; 15316962 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 for gene: COL2A1 Publications for gene COL2A1 were changed from 14729840 to 16752401; 17721977; 15671297 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210 for gene: COL2A1 Publications for gene COL2A1 were changed from 1429602; 15054848; 1374906; 7829510; 3195588; 7757081 to 14729840 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes ACHONDROGENESIS TYPE 2 200610 for gene: COL2A1 Publications for gene COL2A1 were changed from 7874117; 7849719; 7981752 to 1429602; 15054848; 1374906; 7829510; 3195588; 7757081 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger gene: COL2A1 was added gene: COL2A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL2A1 were set to 7874117; 7849719; 7981752 Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA 156550 |
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