RARS1

arginyl-tRNA synthetase 1
OMIM: 107820, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RARS1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 MIM# 616140

Green RARS1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 (# 616140)
Tags
  • new gene name

Green RARS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 MIM# 616140

Green RARS1 in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140

Green RARS1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 9, 616140 (3)
Tags
  • new gene name

Green RARS1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 9, MIM#616140