Genomics England
GMS Panels
Panels
Genes and Entities

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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLCOBALAMIN DEFICIENCY TYPE G 250940
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
Homocystinuria-megaloblastic anemia, cblG complementation type, 250940, {Neural tube defects, folate-sensitive, susceptibility to}, 601634, METHYLCOBALAMIN DEFICIENCY TYPE G (CBLG)
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
Homocystinuria-megaloblastic anemia, cblG complementation type
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
250940 Homocystinuria-megaloblastic anemia, cblG complementation type, Homocystinuria-megaloblastic anemia, cblG complementation type, 250940