Familial pulmonary fibrosis
Gene: FARSAComment on list classification: Promoted from Red to Green. There is now enough evidence to support a gene-disease association (>3 cases).Created: 8 Nov 2021, 3:17 p.m. | Last Modified: 8 Nov 2021, 3:17 p.m.
Panel Version: 1.17
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.Created: 10 May 2021, 3:39 p.m. | Last Modified: 10 May 2021, 3:39 p.m.
Panel Version: 1.79
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: LiteratureCreated: 5 Oct 2020, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Publications
Publications for gene: FARSA were set to 31355908
Gene: farsa has been classified as Green List (High Evidence).
gene: FARSA was added gene: FARSA was added to Familial pulmonary fibrosis. Sources: Expert Review Red,Literature Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSA were set to 31355908 Phenotypes for gene: FARSA were set to ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013