Childhood interstitial lung disease
Gene: FARSBEnsemblGeneIds (GRCh38): ENSG00000116120
EnsemblGeneIds (GRCh37): ENSG00000116120
OMIM: 609690, Gene2Phenotype
FARSB is in 5 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
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
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