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| DDG2P v3.12 | COL1A1 | Achchuthan Shanmugasundram reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8097422, 12538651, 2339700, 8950680, 15728585, 8364588, 1864604, 15024692, 2037280, 7816518, 2794057, 1770532, 3403550, 8910493, 1737847, 3108247, 3082886, 2913053, 9295084, 1988452, 8100209, 8723681, 7881420, 2500431, 8757037, 2309707, 2511192, 1874719, 9067755, 34272483, 8456809, 15864348, 8786074, 3667599, 1634225, 7789952, 11286507, 21834035, 18409203, 2298750, 2295701, 1613761, 8408653; Phenotypes: COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200, CAFFEY DISEASE, OMIM:114000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL1A1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL1A1 was changed from Other - please provide details in the comments to Other Publications for gene: COL1A1 were updated from 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 to 8097422; 2339700; 12538651; 8950680; 15728585; 8364588; 1864604; 15024692; 2037280; 7816518; 2794057; 1770532; 8910493; 3403550; 3108247; 1737847; 3082886; 2913053; 9295084; 1988452; 8100209; 8723681; 7881420; 2500431; 8757037; 2309707; 2511192; 1874719; 9067755; 34272483; 8456809; 15864348; 8786074; 3667599; 1634225; 7789952; 11286507; 21834035; 18409203; 2298750; 2295701; 1613761; 8408653 |
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| DDG2P v0.2 | COL1A1 | Rebecca Foulger reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL1A1 | Rebecca Foulger Added phenotypes COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210 for gene: COL1A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL1A1 |
Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE IIA 166210 for gene: COL1A1 Publications for gene COL1A1 were changed from 15864348 to 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 |
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| DDG2P v0.1 | COL1A1 |
Rebecca Foulger Added phenotypes CAFFEY DISEASE 114000 for gene: COL1A1 Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 15864348 |
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| DDG2P v0.1 | COL1A1 |
Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060 for gene: COL1A1 Publications for gene COL1A1 were changed from 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493 to 3082886; 18409203; 9295084 |
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| DDG2P v0.1 | COL1A1 |
Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE III 259420 for gene: COL1A1 Publications for gene COL1A1 were changed from 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225 to 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493 |
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| DDG2P v0.1 | COL1A1 |
Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE I 166200 for gene: COL1A1 Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225 |
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| DDG2P v0.1 | COL1A1 | Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME TYPE VIIA 319158 for gene: COL1A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL1A1 |
Rebecca Foulger gene: COL1A1 was added gene: COL1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL1A1 were set to 3082886; 18409203; 9295084 Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA 319158 Mode of pathogenicity for gene: COL1A1 was set to Other - please provide details in the comments |
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