Intracerebral calcification disordersGene: FARSA
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.
Created: 5 Oct 2020, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
gene: FARSA was added gene: FARSA was added to Intracerebral calcification disorders. 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