Genomics England
GMS Panels
Panels
Genes and Entities

FARSA

phenylalanyl-tRNA synthetase alpha subunit
OMIM: 602918
PanelMode of inheritanceDetails
3 panels
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013, Rajab interstitial lung disease with brain calcifications 2, MONDO:0100220
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013