White matter disorders and cerebral calcification - narrow panel
Gene: FARSA

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.

Panel Version: 2.9

Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.9

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber. There is now enough evidence to support a gene-disease association (>3 cases). This gene should be rated Green at the next review.
Created: 8 Nov 2021, 3:12 p.m. | Last Modified: 8 Nov 2021, 3:12 p.m.

Panel Version: 1.214

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

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)

Green List (high evidence)

PMID 33598926: three additional families reported. 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: 8 Jul 2021, 7:56 a.m. | Last Modified: 8 Jul 2021, 7:56 a.m.

Panel Version: 1.188

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

Created: 5 Oct 2020, 8:09 a.m.

Panel version: 1.188

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

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

30 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_rating was removed from gene: FARSA.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to FARSA. Source Expert Review Green was added to FARSA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Nov 2021, Gel status: 2