Limb disorders
Gene: FGFR3

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

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: LADD syndrome is associated with variable radial ray defects (at the most severe, bilateral radial aplasia). Therefore include.
Created: 11 May 2017, 12:08 p.m.

Created: 11 May 2017, 12:08 p.m.

Panel version: Imported from Radial dysplasia panel version 0.98

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:35 a.m.

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 12 Jul 2016, 7:19 a.m.

Created: 27 Jul 2016, 9:35 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.701

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Achondroplasia 100800; CATSHL syndrome 610474; Crouzon syndrome with acanthosis nigricans 612247; Hypochondroplasia 146000; LADD syndrome 149730; Muenke syndrome 602849; SADDAN 616482; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:04 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Victorian Clinical Genetics Services
Emory Genetics Laboratory
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
London South East RGC GSTT
Viapath

Phenotypes

Thanatophoric dysplasia, type II 187601
Polydactyly
LADD syndrome 149730
LADD syndrome, 149730
short radius
Achondroplasia 100800
SADDAN 616482
Thanatophoric dysplasia, type I 187600
Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
Hypochondroplasia 146000
CATSHL syndrome 610474
Crouzon syndrome with acanthosis nigricans 612247
Muenke syndrome 602849

OMIM

134934

Clinvar variants

Variants in FGFR3

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

16 Oct 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene FGFR3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR3

13 Aug 2018, Gel status: 4