DDG2P
Gene: FGFR3
The DDG2P confidence category for the disease CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:7493034). The DDG2P confidence category for the disease THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:7773297). The DDG2P confidence category for the disease HYPOCHONDROPLASIA, OMIM:146000 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 11055896;7670477;16912704;10215410;9452043;8589686). The DDG2P confidence category for the disease ACHONDROPLASIA, OMIM:100800 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 16411219;8078586;7758520;16912704;7913883). 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 (PMIDs: 16501574;28483234). The DDG2P confidence category for the disease THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 19449430;7647778;7773297;8845844). The DDG2P confidence category for the disease CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27139183;17033969). The DDG2P confidence category for the disease MUENKE SYNDROME, OMIM:602849 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
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
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 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
Rebecca Foulger: Original DDG2P rating: confirm
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
Added phenotypes HYPOCHONDROPLASIA 146000 for gene: FGFR3 Publications for gene FGFR3 were changed from 17033969 to 7670477; 16912704; 10215410; 9452043; 11055896; 8589686
Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 for gene: FGFR3 Publications for gene FGFR3 were changed from 7773297 to 17033969
Added phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601 for gene: FGFR3 Publications for gene FGFR3 were changed from 7758520; 16411219; 8078586; 16912704; 7913883 to 7773297
Added phenotypes ACHONDROPLASIA 100800 for gene: FGFR3 Publications for gene FGFR3 were changed from 7493034 to 7758520; 16411219; 8078586; 16912704; 7913883
Added phenotypes CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247 for gene: FGFR3 Publications for gene FGFR3 were changed from to 7493034
Added phenotypes MUENKE SYNDROME 602849 for gene: FGFR3
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