MARS1

methionyl-tRNA synthetase 1
OMIM: 156560, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber MARS1 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Trichothiodystrophy, MONDO:0018053 Trichothiodystrophy 8, nonphotosensitive, MIM# 619691Trichothiodystrophy 9, nonphotosensitive, MIM# 619692 Tags new gene name
Green MARS1 in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung and liver disease, MIM#615486 Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280 Trichothiodystrophy 9, nonphotosensitive, MIM# 619692 Spastic paraplegia 70, autosomal recessive, MIM# 620323 Tags new gene name
Green MARS1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Interstitial lung and liver disease, MIM#615486 Tags new gene name
Red MARS1 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Amber MARS1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 70, autosomal recessive, MIM# 620323
Red MARS1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Phenotypes HMSN Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Green MARS1 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 Interstitial lung and liver disease, 615486 (3) Tags new gene name
Green MARS1 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Interstitial lung and liver disease, MIM#615486
Green MARS1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Interstitial lung and liver disease, MIM#615486 Tags new gene name