Choanal atresia

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

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 populations
Created: 11 Aug 2016, 8:47 a.m.
Comment on list classification: Numerous reports of a single variant c.1172C>A, p.Ala391Glu
Created: 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 187601
Created: 11 Aug 2016, 8:35 a.m.

History Filter Activity

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FGFR3 were set to 11426459; 17935505; 20199409

11 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247

11 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FGFR3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Aug 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

FGFR3 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR3 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing