GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FGFR3EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Changed rating to green as Tracy Lester confirmed it should have a green rating.Created: 18 Apr 2019, 1:56 p.m.
Tracy Lester (Genetics laboratory, Oxford UK)
This gene should definitely be greenCreated: 18 Apr 2019, 1:53 p.m.
FGFR3 chondrodysplasia group, craniosynostosis syndromes gp of SD, polydactyly-syndactyly-triphalangism SD gp. Truncating/fs variants have not been reported in skeletal phenotypes though mutation of the stop codon has been.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 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
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Thanatophoric dysplasia, type I 187600
- Muenke syndrome 602849
- CATSHL syndrome 610474
- SADDAN 616482
- Thanatophoric dysplasia, type II 187601
- Achondroplasia 100800
- LADD syndrome 149730
- Hypochondroplasia 146000
- Crouzon syndrome with acanthosis nigricans 612247
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- VACTERL-like phenotypes
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Clefting
- Limb disorders
- Skeletal dysplasia
- Monogenic short stature
- Common craniosynostosis syndromes
- Choanal atresia
- Arthrogryposis
- Thanatophoric dysplasia
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Intellectual disability
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: fgfr3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FGFR3 was added gene: FGFR3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FGFR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR3 were set to Thanatophoric dysplasia, type I 187600; Muenke syndrome 602849; CATSHL syndrome 610474; SADDAN 616482; Thanatophoric dysplasia, type II 187601; Achondroplasia 100800; LADD syndrome 149730; Hypochondroplasia 146000; Crouzon syndrome with acanthosis nigricans 612247