Cholestasis

Gene: FARSA

Red List (low evidence)

FARSA (phenylalanyl-tRNA synthetase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000179115
EnsemblGeneIds (GRCh37): ENSG00000179115
OMIM: 602918, Gene2Phenotype
FARSA is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
OMIM
602918
Clinvar variants
Variants in FARSA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FARSA was added gene: FARSA was added to Cholestasis. 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