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| DDG2P v3.12 | FGFR2 | Achchuthan Shanmugasundram reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7719344, 9677057, 7987400, 7874170, 9973282, 8696350, 19610084, 15523492, 22038757, 7607643, 8528214, 7581378, 7655462, 17621648, 9002682, 9152842; Phenotypes: APERT SYNDROME, OMIM:101200, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, JACKSON-WEISS SYNDROME, OMIM:123150, ANTLEY-BIXLER SYNDROME, OMIM:207410, CROUZON SYNDROME, OMIM:123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FGFR2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR2 was changed from Other - please provide details in the comments to Other Publications for gene: FGFR2 were updated from 19610084; 8696350 to 7719344; 9677057; 7987400; 7874170; 9973282; 8696350; 19610084; 15523492; 7607643; 9152842; 8528214; 7581378; 7655462; 17621648; 9002682; 22038757 |
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| DDG2P v0.2 | FGFR2 | Rebecca Foulger reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes ACROCEPHALOSYNDACTYLY TYPE V 101600 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 |
Rebecca Foulger Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 for gene: FGFR2 Publications for gene FGFR2 were changed from 7874170 to 19610084; 8696350 |
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| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes ANTLEY-BIXLER SYNDROME 207410 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 |
Rebecca Foulger Added phenotypes JACKSON-WEISS SYNDROME 123150 for gene: FGFR2 Publications for gene FGFR2 were changed from 9002682; 7719344; 9973282 to 7874170 |
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| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes FAMILIAL SCAPHOCEPHALY SYNDROME 609579 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 |
Rebecca Foulger Added phenotypes APERT SYNDROME 101200 for gene: FGFR2 Publications for gene FGFR2 were changed from 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757 to 9002682; 7719344; 9973282 |
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| DDG2P v0.1 | FGFR2 |
Rebecca Foulger gene: FGFR2 was added gene: FGFR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR2 were set to 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757 Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME 123500 Mode of pathogenicity for gene: FGFR2 was set to Other - please provide details in the comments |
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