Genomics England
GMS Panels
Panels
Genes and Entities

MTHFR

methylenetetrahydrofolate reductase
OMIM: 607093
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria due to MTHFR deficiency, 236250
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria due to MTHFR deficiency, 236250, seizures
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY (MTHFRD)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport), Homocystinuria due to MTHFR deficiency