Pulmonary Fibrosis_Interstitial Lung Disease

Gene: FARSA

Green List (high evidence)

FARSA is a subunit with FARSB to form FARS1 enzyme. Bi-allelic mutations in FARSB are well described. Schuch et al. (2021) report 3 unrelated individuals with bi-allelic variants in FARSA. Identified through WES and variants segregated with disease. Functional evidence was obtained with reduced FARS1 enzyme activity levels in fibroblasts or EBV-transformed lymphoblastoid cell lines (EBV-LCLs) of patients. Common to all was a chronic interstitial lung disease starting early in life and characterized by bilateral ground-glass opacification on HR-CT, and cholesterol pneumonitis in lung histology. Additional abnormalities in other organ systems include liver disease, neurological manifestations, and growth restriction.

Created: 15 Jun 2021, 3:13 a.m. | Last Modified: 15 Jun 2021, 3:13 a.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications 2

Publications

• PMID: 33598926

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder.
Sources: Literature

Created: 10 Sep 2020, 8:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications 2 619013

Publications

• 31355908