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| DDG2P v6.17 | FGFR3 | Achchuthan Shanmugasundram edited their review of gene: FGFR3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related lacrimo-auriculo-dento-digital syndrome (LADD) are definitive, monoallelic_autosomal and undetermined (PMIDs: 16501574, 28483234). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00012. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related Muenke syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10914960, 11197897, 9042914, 9279753, 9279764, 9525367, 9600744, 9950359). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00178. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related Crouzon syndrome with acanthosis nigricans are definitive, monoallelic_autosomal and gain of function (PMIDs: 11426459, 23437153, 31016899, 32860240, 34388723, 37397405, 7493034, 8880573). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00864. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related achondroplasia are definitive, monoallelic_autosomal and gain of function (PMIDs: 10611230, 11186940, 16411219, 16912704, 7758520, 7847369, 7913883, 8078586, 8599370, 8844216, 8949407, 9001669, 9401015). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00944. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related thanatophoric dysplasia, type 2 are definitive, monoallelic_autosomal and gain of function (PMID:7773297). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01101. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related camptodactyly tall stature and hearing loss syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 17033969, 27139183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01202. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related hypochondroplasia are definitive, monoallelic_autosomal and gain of function (PMIDs: 10215410, 11015576, 11055896, 16912704, 7670477, 8589686, 9452043). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01257. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related thanatophoric dysplasia, type 1 are definitive, monoallelic_autosomal and gain of function (PMIDs: 10360402, 10910625, 11309183, 19449430, 7647778, 7773297, 8589699, 8845844, 9215781, 9790257). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01321.; Changed publications to: 16912704, 8949407, 8078586, 10215410, 11309183, 11055896, 23437153, 11426459, 9279764, 9950359, 7913883, 11186940, 9215781, 28483234, 11197897, 37397405, 16501574, 9042914, 16411219, 7847369, 8845844, 8589699, 27139183, 8880573, 9279753, 7670477, 17033969, 10914960, 9001669, 7647778, 8599370, 9452043, 7493034, 19449430, 10360402, 7773297, 10611230, 31016899, 9525367, 9401015, 8844216, 11015576, 34388723, 32860240, 9600744, 8589686, 7758520, 10910625, 9790257; Changed phenotypes to: MONDO:0859577, MONDO:0012833, FGFR3-related thanatophoric dysplasia, type 1, FGFR3-related Crouzon syndrome with acanthosis nigricans, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, HYPOCHONDROPLASIA, OMIM:146000, OMIM:620192.0, MONDO:0008546, OMIM:100800.0, THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, FGFR3-related thanatophoric dysplasia, type 2, OMIM:146000.0, MONDO:0008547, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, OMIM:610474.0, MUENKE SYNDROME, OMIM:602849, FGFR3-related achondroplasia, FGFR3-related Muenke syndrome, OMIM:187600.0, MONDO:0011274, MONDO:0012504, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACHONDROPLASIA, OMIM:100800, OMIM:187601.0, FGFR3-related lacrimo-auriculo-dento-digital syndrome (LADD), MONDO:0007793, FGFR3-related hypochondroplasia, MONDO:0007037, OMIM:612247.0, OMIM:602849.0, FGFR3-related camptodactyly tall stature and hearing loss syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.12 | ACAN | Achchuthan Shanmugasundram reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE, OMIM:612813, SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY, OMIM:608361; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACAN | Rebecca Foulger reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ACAN | Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813 for gene: ACAN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACAN |
Rebecca Foulger gene: ACAN was added gene: ACAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACAN were set to SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361 |
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