MTHFR

methylenetetrahydrofolate reductase
OMIM: 607093
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria due to MTHFR deficiency, 236250, seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport), Homocystinuria due to MTHFR deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY (MTHFRD)
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria due to MTHFR deficiency, 236250