DDG2P
Gene: FGFR2
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:7874170). 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 (PMIDs: 7581378;7987400;9152842;15523492;7874170;22038757;7607643;7655462;9677057;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 (PMIDs: 7719344;9002682;9973282). 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 (PMIDs: 8696350;19610084). The DDG2P confidence category for the disease ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. The DDG2P confidence category for the disease ANTLEY-BIXLER SYNDROME, OMIM:207410 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. The DDG2P confidence category for the disease LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Publications
Mode of pathogenicity
Other
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, uncertain.Created: 19 Nov 2018, 11:29 a.m.
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
Rebecca Foulger: Original DDG2P rating: confirm
Added phenotypes ACROCEPHALOSYNDACTYLY TYPE V 101600 for gene: FGFR2
Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 for gene: FGFR2 Publications for gene FGFR2 were changed from 7874170 to 19610084; 8696350
Added phenotypes ANTLEY-BIXLER SYNDROME 207410 for gene: FGFR2
Added phenotypes JACKSON-WEISS SYNDROME 123150 for gene: FGFR2 Publications for gene FGFR2 were changed from 9002682; 7719344; 9973282 to 7874170
Added phenotypes FAMILIAL SCAPHOCEPHALY SYNDROME 609579 for gene: FGFR2
Added phenotypes LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 for gene: FGFR2
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
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