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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. FARSB
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Pulmonary Fibrosis_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 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 unrelated families reported with biallelic loss of function variants. The condition is characterised by interstitial lung disease, cerebral aneurysms and brain calcifications, and cirrhosis.
Created: 20 Apr 2022, 4:58 a.m. | Last Modified: 20 Apr 2022, 4:58 a.m.
Panel Version: 0.13106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215

Publications

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

Created: 20 Apr 2022, 4:58 a.m.
Last Modified: 20 Apr 2022, 4:58 a.m.
Panel version: Imported from Mendeliome panel version 0.13106

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rajab syndrome, MIM#613658
  • interstitial lung disease
  • brain calcifications
  • microcephaly
  • intellectual disability
OMIM
609690
Clinvar variants
Variants in FARSB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FARSB were changed from to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability

14 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FARSB were set to

14 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FARSB was added gene: FARSB was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FARSB was set to Unknown