Childhood interstitial lung disease

Gene: FARSB

Green List (high evidence)

FARSB (phenylalanyl-tRNA synthetase beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000116120
EnsemblGeneIds (GRCh37): ENSG00000116120
OMIM: 609690, Gene2Phenotype
FARSB is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

FARSB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #613658) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications 1, OMIM:613658; Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rajab interstitial lung disease with brain calcifications 1, OMIM:613658
  • Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215
OMIM
609690
Clinvar variants
Variants in FARSB
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FARSB was added gene: FARSB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARSB were set to Rajab interstitial lung disease with brain calcifications 1, OMIM:613658; Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215