Choanal atresia
Gene: FGFR3Comment 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.
Promoted to version 1, 11th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for FGFR3 were set to 11426459; 17935505; 20199409
Phenotypes for FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247
Mode of inheritance for FGFR3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
FGFR3 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
FGFR3 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing