MTHFR

methylenetetrahydrofolate reductase
OMIM: 607093, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green MTHFR in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport
Green MTHFR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250
Green MTHFR in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MTHFR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green MTHFR in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Homocystinuria due to MTHFR deficiency, 236250
Green MTHFR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria due to MTHFR deficiency, 236250 (3)
Amber MTHFR in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category B gene Phenotypes Homocystinuria due to MTHFR deficiency
Green MTHFR in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport
Green MTHFR in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria due to MTHFR deficiency, 236250 (3)
Green MTHFR in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353
Red MTHFR in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category B gene Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250
Green MTHFR in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria due to MTHFR deficiency, 236250 (3)
Green MTHFR in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Disorders of folate metabolism