AHCY

adenosylhomocysteinase
OMIM: 180960
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal hydrops, S-adenosylhomocysteine hydrolase deficiency, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752, Disorders of the metabolism of sulphur amino acids
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752