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| DDG2P v3.12 | FGFR3 | Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28483234, 8845844, 7493034, 7913883, 17033969, 16912704, 16501574, 7758520, 11055896, 19449430, 9452043, 7670477, 7773297, 10215410, 7647778, 16411219, 8078586, 8589686, 27139183; Phenotypes: THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, MUENKE SYNDROME, OMIM:602849, HYPOCHONDROPLASIA, OMIM:146000, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, ACHONDROPLASIA, OMIM:100800, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FGFR3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR3 was changed from Other - please provide details in the comments to Other Publications for gene: FGFR3 were updated from 7773297; 19449430; 8845844; 7647778 to 28483234; 8845844; 7493034; 7913883; 17033969; 16912704; 16501574; 7758520; 11055896; 19449430; 9452043; 7670477; 7773297; 10215410; 7647778; 16411219; 8078586; 8589686; 27139183 |
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| DDG2P v0.2 | FGFR3 | Rebecca Foulger reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 1 187600 for gene: FGFR3 Publications for gene FGFR3 were changed from 7670477; 16912704; 10215410; 9452043; 11055896; 8589686 to 7773297; 19449430; 8845844; 7647778 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes HYPOCHONDROPLASIA 146000 for gene: FGFR3 Publications for gene FGFR3 were changed from 17033969 to 7670477; 16912704; 10215410; 9452043; 11055896; 8589686 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 for gene: FGFR3 Publications for gene FGFR3 were changed from 7773297 to 17033969 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601 for gene: FGFR3 Publications for gene FGFR3 were changed from 7758520; 16411219; 8078586; 16912704; 7913883 to 7773297 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes ACHONDROPLASIA 100800 for gene: FGFR3 Publications for gene FGFR3 were changed from 7493034 to 7758520; 16411219; 8078586; 16912704; 7913883 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247 for gene: FGFR3 Publications for gene FGFR3 were changed from to 7493034 |
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| DDG2P v0.1 | FGFR3 | Rebecca Foulger Added phenotypes MUENKE SYNDROME 602849 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR3 |
Rebecca Foulger gene: FGFR3 was added gene: FGFR3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 Mode of pathogenicity for gene: FGFR3 was set to Other - please provide details in the comments |
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