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  3. FARSA
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Intracerebral calcification disorders

Gene: FARSA

Green List (high 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: Promoted from Red to Green. There is now enough evidence to support a gene-disease association (>3 cases).
Created: 8 Nov 2021, 3:15 p.m. | Last Modified: 8 Nov 2021, 3:15 p.m.
Panel Version: 1.31
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.
Copied from panel: White matter disorders and cerebral calcification - narrow panel v1.79

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

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

Copied from panel: White matter disorders and cerebral calcification - narrow panel v1.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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

8 Nov 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FARSA were set to 31355908

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: farsa has been classified as Green List (High Evidence).

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 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