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Fetal anomalies

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)

Green List (high evidence)

Additional evidence from PMID:30712878: De novo variants identified in FGFR3 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Created: 18 Apr 2019, 3:57 p.m.
Additional evidence from PMID:29595812:De novo variant identified in FGFR3 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).
Created: 18 Apr 2019, 3:54 p.m.
Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in FGFR3 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for MUENKE SYNDROME, Confirmed for CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, Confirmed for ACHONDROPLASIA, Confirmed for THANATOPHORIC DYSPLASIA TYPE 2, Confirmed for CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, Confirmed for HYPOCHONDROPLASIA, and Confirmed for THANATOPHORIC DYSPLASIA TYPE 1.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Activating for MUENKE SYNDROME, THANATOPHORIC DYSPLASIA TYPE 2, HYPOCHONDROPLASIA and THANATOPHORIC DYSPLASIA TYPE 1. MOP listed as Uncertain for CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME and LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.186

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes THANATOPHORIC DYSPLASIA TYPE 1 for gene: FGFR3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPOCHONDROPLASIA for gene: FGFR3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME for gene: FGFR3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes THANATOPHORIC DYSPLASIA TYPE 2 for gene: FGFR3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ACHONDROPLASIA for gene: FGFR3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS for gene: FGFR3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MUENKE SYNDROME for gene: FGFR3

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FGFR3 was added gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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