LARS1

leucyl-tRNA synthetase 1
OMIM: 151350, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber LARS1 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
  • new gene name

Green LARS1 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
  • Seizures
  • Intellectual disability
  • Encephalopathy
Tags
  • new gene name

Green LARS1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
  • Seizures
  • Intellectual disability
  • Encephalopathy
Tags
  • new gene name

Green LARS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
  • Seizures
  • Intellectual disability
  • Encephalopathy
Tags
  • new gene name

Green LARS1 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
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
  • new gene name

Red LARS1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Infantile liver failure syndrome

Green LARS1 in Liver Failure_Paediatric


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438

Green LARS1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile liver failure syndrome 1 MIM#615438
  • disorder of leucine metabolism

Green LARS1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438

Red LARS1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Infantile liver failure syndrome

Green LARS1 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
  • new gene name