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Intellectual disability

Gene: FARSA

Green List (high evidence)
FARSA (phenylalanyl-tRNA synthetase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000179115
EnsemblGeneIds (GRCh37): ENSG00000179115
OMIM: 602918, Gene2Phenotype
FARSA is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

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, 3:15 p.m. | Last Modified: 8 Nov 2021, 3:15 p.m.
Panel Version: 3.1428
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

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: FARSA.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: FARSA.

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: farsa has been classified as Amber List (Moderate 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 Intellectual disability. Sources: Literature,Expert Review Red 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