Choanal atresia
Gene: FGFR3EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous reports of a single variant (c.1172C>A, p.Ala391Glu) in different populationsCreated: 11 Aug 2016, 8:47 a.m.
Comment on list classification: Numerous reports of a single variant c.1172C>A, p.Ala391GluCreated: 11 Aug 2016, 8:46 a.m.
Comment on phenotypes: Variants also reported in Achondroplasia 100800, Bladder cancer, somatic 109800, CATSHL syndrome 610474, Cervical cancer, somatic 603956, Colorectal cancer, somatic 114500, Hypochondroplasia 146000, LADD syndrome 149730, Muenke syndrome 602849, Nevus, epidermal, somatic 162900, SADDAN 616482, Spermatocytic seminoma, somatic 273300, Thanatophoric dysplasia, type I 187600 and Thanatophoric dysplasia, type II 187601Created: 11 Aug 2016, 8:35 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Crouzon syndrome with acanthosis nigricans 612247
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Monogenic diabetes
- Intellectual disability
- VACTERL-like phenotypes
- Limb disorders
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- DDG2P
- Insulin resistance (including lipodystrophy)
- Clefting
- Monogenic short stature
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Thanatophoric dysplasia
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1, 11th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for FGFR3 were set to 11426459; 17935505; 20199409
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FGFR3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)FGFR3 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR3 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing