FARSB:Ensemblv90

phenylalanyl-tRNA synthetase beta subunit
OMIM: 609690, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FARSB in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews 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 1.3802

    1 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 0.178

    1 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 1.508

    1 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 Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

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

    Green FARSB in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

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