MARS2

methionyl-tRNA synthetase 2, mitochondrial
OMIM: 609728, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green MARS2 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Perrault syndrome 2, MIM# 614926
Green MARS2 in Mendeliome Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390
Amber MARS2 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390
Green MARS2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship
Red MARS2 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 Red Expert list Phenotypes ?Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390
Green MARS2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green MARS2 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green MARS2 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green MARS2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic ataxia 3, autosomal recessive, 611390 (3)
Green MARS2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 25 MIM #616430, MONDO:0014636 Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664