NARS1

asparaginyl-tRNA synthetase 1
OMIM: 108410, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NARS1 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092
  • Hereditary peripheral neuropathy, MONDO:0020127, NARS-related
Tags
  • new gene name

Green NARS1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092
Tags
  • new gene name

Green NARS1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092
  • Abnormal muscle tone
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Ataxia
  • Abnormality of the face
  • Demyelinating peripheral neuropathy
Tags
  • new gene name

Green NARS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092
  • Abnormal muscle tone
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Ataxia
  • Abnormality of the face
  • Demyelinating peripheral neuropathy
Tags
  • new gene name

Green NARS1 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092
  • Abnormal muscle tone
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Ataxia
  • Abnormality of the face
  • Demyelinating peripheral neuropathy
Tags
  • new gene name

Green NARS1 in Fetal anomalies


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092