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| DDG2P v6.163 | FGFR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FGFR2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FGFR2 | Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Crouzon syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10574673, 15523492, 17621648, 22038757, 7558045, 7581378, 7607643, 7655462, 7773284, 7874170, 7987400, 8528214, 8956050, 9152842, 9677057). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00144. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Apert Syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 7668257, 7719344, 8651276, 9002682, 9217234, 9452027, 9973282). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00331. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related lacrimo-auriculo-dento-digital syndrome (LADD) are definitive, monoallelic_autosomal and gain of function (PMIDs: 16501574, 32715658). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00621. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Jackson-Weiss syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 7874170, 9385368). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01005. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Antley-Bixler syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 10633130, 15793702, 9605588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01090. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Beare-Stevenson cutis gyrata syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 12000365, 19610084, 8696350, 9545103). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01273. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Pfeiffer syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10394936, 10731087, 10945669, 11380927, 11556600, 11807866, 7719333, 9150725, 9457499, 9475591). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01586.; Changed publications to: 9457499, 22038757, 8696350, 17621648, 8528214, 11807866, 7655462, 8956050, 9002682, 9475591, 7719344, 16501574, 15523492, 9217234, 7581378, 9973282, 11380927, 9385368, 15793702, 11556600, 7874170, 9150725, 9605588, 7719333, 7668257, 10633130, 10574673, 9545103, 12000365, 7773284, 7987400, 32715658, 9677057, 10731087, 9152842, 10394936, 10945669, 7558045, 9452027, 7607643, 8651276, 19610084; Changed phenotypes to: OMIM:149730.0, OMIM:123150.0, MONDO:0020667, MONDO:0007400, OMIM:123790.0, MONDO:0007412, MONDO:0007043, FGFR2-related lacrimo-auriculo-dento-digital syndrome (LADD), OMIM:101600.0, OMIM:101200.0, MONDO:0007405, FGFR2-related Pfeiffer syndrome, CROUZON SYNDROME, OMIM:123500, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, OMIM:207410.0, MONDO:0100302, OMIM:123500.0, FGFR2-related Apert Syndrome, APERT SYNDROME, OMIM:101200, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, FGFR2-related Jackson-Weiss syndrome, JACKSON-WEISS SYNDROME, OMIM:123150, FGFR2-related Antley-Bixler syndrome, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, MONDO:0007041, FGFR2-related Crouzon syndrome, FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Beare-Stevenson cutis gyrata syndrome, FGFR2-related Pfeiffer syndrome, OMIM:101600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | FGFR2 | Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category for the disease ANTLEY-BIXLER SYNDROME, OMIM:207410 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9605588). The DDG2P confidence category for the disease FGFR2-related Pfeiffer syndrome, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 10945669;9475591;11556600;11380927;10731087;7719333;10394936;9457499;11807866;9150725). The DDG2P confidence category for the disease CROUZON SYNDROME, OMIM:123500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7581378;7987400;9152842;15523492;7874170;8956050;22038757;7607643;7655462;9677057;7773284;10574673;7558045;8528214;17621648). The DDG2P confidence category for the disease APERT SYNDROME, OMIM:101200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7719344;8651276;9452027;9002682;9217234;7668257;9973282). The DDG2P confidence category for the disease JACKSON-WEISS SYNDROME, OMIM:123150 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9385368;7874170). The DDG2P confidence category for the disease BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9545103;12000365;8696350;19610084). The DDG2P confidence category for the disease FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;uncertain.; Changed publications to: 17621648, 12000365, 10394936, 11807866, 9475591, 19610084, 8528214, 9385368, 10574673, 9150725, 10731087, 22038757, 15523492, 9457499, 7668257, 8956050, 7607643, 9002682, 7874170, 8696350, 7558045, 9217234, 8651276, 9605588, 7581378, 9973282, 9452027, 9677057, 7719344, 7719333, 7655462, 9152842, 7987400, 10945669, 9545103, 11380927, 11556600, 7773284; Changed phenotypes to: FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Pfeiffer syndrome, OMIM:101600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, CROUZON SYNDROME, OMIM:123500, JACKSON-WEISS SYNDROME, OMIM:123150, APERT SYNDROME, OMIM:101200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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