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Intellectual disability

Gene: FARSB

Amber List (moderate evidence)
FARSB (phenylalanyl-tRNA synthetase beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000116120
EnsemblGeneIds (GRCh37): ENSG00000116120
OMIM: 609690, Gene2Phenotype
FARSB is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber following consultation with the clinical team in view of the inconsistent phenotype. Patients are more likely to be recognised on the basis of other phenotypic features, for which FARSB has been rated Green
Created: 3 Aug 2020, 2:30 p.m. | Last Modified: 3 Aug 2020, 2:30 p.m.
Panel Version: 3.225
Associated with Rajab interstitial lung disease with brain calcifications in OMIM, but not in G2P.

Biallelic variants are associated with a multisystem disorder characterised by interstitial lung disease, cerebral aneurysms and brain calcifications, cirrhosis, and failure to thrive.

Antonellis et al. (2018) (PMID: 29573043) - Compound heterozygous variants (c.767C>T, p.Thr256Met; c.1486delCinsAA, p.His496Lysfs*14) identified in a male. Developmental delay was reported at 4 months and persisted until the patient passed away at 32 months. Expression studies using patient fibroblasts showed severe depletion in protein levels, with indication of a loss-off-function effect.

Xu et al. 2018 (PMID: 29979980) - five affected individuals from four families with bi-allelic FARSB variants. Psychomotor delay was only reported in one participant, while cognitive development in all other cases was said to be normal.

Zadjali et al. (2018) (PMID: 30014610) - eight affected individuals from a large consanguineous Omani family revealed homozygosity for a missense variant (c.853G>A, p.Glu285Lys). Despite developmental delay and learning difficulties in early childhood, all recently assessed participants (5/8) completed school with support and three admitted to university‐level education. As adults, all were able to function independently and had normal social interactions.
Created: 3 Aug 2020, 2:25 p.m. | Last Modified: 3 Aug 2020, 2:25 p.m.
Panel Version: 3.224

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications, 613658

Publications

Created: 3 Aug 2020, 2:25 p.m.
Last Modified: 3 Aug 2020, 2:25 p.m.
Panel version: 3.224

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 unrelated families reported.
Sources: Expert list
Created: 2 Feb 2020, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Created: 2 Feb 2020, 8:37 a.m.

Panel version: 3.0

Details

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

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: farsb has been classified as Amber List (Moderate Evidence).

2 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FARSB was added gene: FARSB was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSB were set to 29573043; 1916114; 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 gene: FARSB was marked as current diagnostic