Interstitial Lung Disease

Gene: FGFR2

Amber List (moderate evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 20 panels

1 review

Suzanna Lindsey-Temple (Liverpool Hospital)

I don't know

PMID: 27323706 - single report of ectrodactyly with pulmonary acinar dysplasia in an infant associated with homozygous loss-of-function FGFR2 variants. Supporting functional data.
Created: 6 Nov 2021, 4:32 a.m. | Last Modified: 6 Nov 2021, 4:32 a.m.
Panel Version: 0.183

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.

Publications

History Filter Activity

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr2 has been classified as Amber List (Moderate Evidence).

8 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGFR2 were changed from to Ectrodactyly, pulmonary acinar dysplasia

8 Nov 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGFR2 were set to

8 Nov 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR2 was added gene: FGFR2 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR2 was set to Unknown