FARSB

phenylalanyl-tRNA synthetase beta subunit
OMIM: 609690, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FARSB in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rajab syndrome, MIM#613658
    • interstitial lung disease
    • brain calcifications
    • microcephaly
    • intellectual disability

    Green FARSB in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215

    Green FARSB in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.57

    review 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

    Green FARSB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rajab syndrome, MIM#613658
    • interstitial lung disease
    • brain calcifications
    • microcephaly
    • intellectual disability