MTR

5-methyltetrahydrofolate-homocysteine methyltransferase
OMIM: 156570
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLCOBALAMIN DEFICIENCY TYPE G 250940
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
Homocystinuria-megaloblastic anemia, cblG complementation type
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
Homocystinuria-megaloblastic anemia, cblG complementation type, 250940, {Neural tube defects, folate-sensitive, susceptibility to}, 601634, METHYLCOBALAMIN DEFICIENCY TYPE G (CBLG)
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
250940 Homocystinuria-megaloblastic anemia, cblG complementation type, Homocystinuria-megaloblastic anemia, cblG complementation type, 250940