DDG2P
Gene: FGFR3

FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

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
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

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, uncertain.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

THANATOPHORIC DYSPLASIA TYPE 2 187601
THANATOPHORIC DYSPLASIA TYPE 1 187600
MUENKE SYNDROME 602849
ACHONDROPLASIA 100800
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247
CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474
LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730
HYPOCHONDROPLASIA 146000

OMIM

134934

Clinvar variants

Variants in FGFR3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: FGFR3 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

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

29 Jan 2019, Gel status: 4