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Limb disorders

Gene: FGFR3

Green List (high evidence)

FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 22 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.

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.

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

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

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to FGFR3. Panel: Limb disorders Phenotypes for gene FGFR3 were set to 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, Polydactyly

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to FGFR3. Panel: Limb disorders UKGTN was added to FGFR3. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to FGFR3. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to FGFR3. Panel: Limb disorders Expert list was added to FGFR3. Panel: Limb disorders Emory Genetics Laboratory was added to FGFR3. Panel: Limb disorders Model of inheritance for gene FGFR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FGFR3. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR3 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FGFR3 was created by Ellen McDonagh