MTHFR

methylenetetrahydrofolate reductase
OMIM: 607093, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green MTHFR in Mendeliome Version 2.0	1 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 2.0	2 reviews	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 1.0	0 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport
Green MTHFR in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Homocystinuria due to MTHFR deficiency, 236250
Green MTHFR 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 Homocystinuria due to MTHFR deficiency, 236250 (3)
Amber MTHFR in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	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 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria due to MTHFR deficiency, MIM# 236250
Green MTHFR in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353
Red MTHFR in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria due to MTHFR deficiency, MIM# 236250
Green MTHFR in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Disorders of folate metabolism
Amber MTHFR in Infertility and Recurrent Pregnancy Loss Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Recurrent pregnancy loss susceptibility