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Intellectual disability syndromic and non-syndromic

Gene: FARSA

Green List (high evidence)

FARSA (phenylalanyl-tRNA synthetase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000179115
EnsemblGeneIds (GRCh37): ENSG00000179115
OMIM: 602918, Gene2Phenotype
FARSA is in 4 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

FARSA is a subunit with FARSB to form FARS1 enzyme. Bi-allelic mutations in FARSB are well described.
Schuch et al. (2021) report 3 unrelated individuals with bi-allelic variants in FARSA. Identified through WES and variants segregated with disease. 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.
Sources: Literature
Created: 15 Jun 2021, 3:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications 2

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

15 Jun 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: FARSA was added gene: FARSA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSA were set to PMID: 33598926 Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2 Review for gene: FARSA was set to GREEN gene: FARSA was marked as current diagnostic