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DDG2P

Gene: FGFR3

Green List (high evidence)

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

1 review

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.

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
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPOCHONDROPLASIA 146000 for gene: FGFR3 Publications for gene FGFR3 were changed from 17033969 to 7670477; 16912704; 10215410; 9452043; 11055896; 8589686

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 for gene: FGFR3 Publications for gene FGFR3 were changed from 7773297 to 17033969

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601 for gene: FGFR3 Publications for gene FGFR3 were changed from 7758520; 16411219; 8078586; 16912704; 7913883 to 7773297

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes ACHONDROPLASIA 100800 for gene: FGFR3 Publications for gene FGFR3 were changed from 7493034 to 7758520; 16411219; 8078586; 16912704; 7913883

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247 for gene: FGFR3 Publications for gene FGFR3 were changed from to 7493034

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MUENKE SYNDROME 602849 for gene: FGFR3

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

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