MARS

methionyl-tRNA synthetase
OMIM: 156560, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red MARS in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • trichothiodystrophy, MONDO:0018053
Tags
  • new-gene-name
  • watchlist
Green MARS in Adult onset leukodystrophy


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
  • new-gene-name
  • to_be_confirmed_NHSE
Red MARS in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
  • new-gene-name
Red MARS in Childhood onset hereditary spastic paraplegia


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
  • Expert list
Tags
  • new-gene-name
Red MARS in Adult onset hereditary spastic paraplegia


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • South West GLH
Tags
  • new-gene-name
Red MARS in Adult onset neurodegenerative disorder


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Tags
  • new-gene-name
Red MARS in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Red
  • Expert Review
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
  • new-gene-name
Red MARS in Hereditary neuropathy or pain disorder


Version 4.6
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
  • new-gene-name
Green MARS in Pulmonary fibrosis familial

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
Latest signed off version: v1.3 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung and liver disease, OMIM:615486
Tags
  • new-gene-name