MAT1A

methionine adenosyltransferase 1A
OMIM: 610550
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III 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
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY