WARS

tryptophanyl-tRNA synthetase
OMIM: 191050
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WARS1-associated neurodevelopmental syndrome, Distal hereditary motor neuropathy
R-numbers: R78
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuronopathy, distal hereditary motor, type IX, 617721
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317, neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218
R-numbers: R88
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317, neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218