Limb disorders
Gene: FGFR3Comment 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.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 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.
Tier 1Created: 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
Ana Beleza: Tier 1
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
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
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
London South East RGC GSTT was added to FGFR3. Panel: Limb disorders
FGFR3 was added to Limb disorders panel. Sources: Viapath
FGFR3 was created by Ellen McDonagh