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Brain Calcification

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

2 reviews

Yetong Chen (University of Melbourne)

Green List (high evidence)

PMID 29979980 reports 3 patients from 2 families with variants of FARSB who developed brain calcification.
PMID 19161147 reports 8 patients from the same consanguineous family who developed brain calcification. Recombination frequency mapping suggests a peak LOD score of 6.17 at D2S351 and D2S2390 on 2q36.2, which is close to where FARSB is located (2q36.1).
PMID 30014610 reports 5 patients with homozygous variants of FARSA who developed brain calcification. The 5 individuals are from a large consanguineous family. Co-segregation of phenotype and FARSA variant is confirmed. 3 deceased individuals were also affected by brain calcification; however, their genotypes are not indicated in the pedigree while the authors state that all affected individuals carried the same FARSA variant. The genotypes of the 3 individuals are unsure, so they are not counted.
Created: 8 Apr 2023, 11:54 a.m. | Last Modified: 8 Apr 2023, 11:54 a.m.
Panel Version: 1.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications 1, MIM# 613658

Publications

Created: 8 Apr 2023, 11:54 a.m.
Last Modified: 8 Apr 2023, 11:54 a.m.
Panel version: 1.51

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 unrelated families reported.
Sources: Expert list
Created: 14 Jan 2020, 10:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability

Publications

Created: 14 Jan 2020, 10:49 p.m.

Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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

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: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FARSB was added gene: FARSB was added to Brain calcification_VCGS. Sources: Expert list Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610 Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability Review for gene: FARSB was set to GREEN