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Additional findings_Paediatric

Gene: MTR

Green List (high evidence)

MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria
OMIM
156570
Clinvar variants
Variants in MTR
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTR was added gene: MTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria