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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 unrelated families reported.
Sources: Expert list
Created: 14 Jan 2020, 10:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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 Intellectual disability, syndromic and non-syndromic_GHQ_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