FARSB

phenylalanyl-tRNA synthetase beta subunit
OMIM: 609690, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green FARSB in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rajab interstitial lung disease with brain calcifications, 613658
Amber FARSB in Cholestasis


Level 2: Gastrohepatology
Version 4.5
Latest signed off version: v4.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rajab interstitial lung disease with brain calcifications, 613658
Green FARSB in Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.37

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


Level 2: Developmental disorders
Version 10.18
Latest signed off version: v10.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Rajab syndrome, MIM#613658
    • interstitial lung disease
    • brain calcifications
    • microcephaly
    • intellectual disability
    Green FARSB in Childhood interstitial lung disease


    Level 2: Respiratory
    Version 1.1
    Latest signed off version: v1.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Rajab interstitial lung disease with brain calcifications 1, OMIM:613658
    • Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215