Interstitial Lung Disease
Gene: FGFR2
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
Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FGFR2 were changed from to Ectrodactyly, pulmonary acinar dysplasia
Publications for gene: FGFR2 were set to
Mode of inheritance for gene: FGFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
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