MUT

methylmalonyl-CoA mutase
OMIM: 609058
PanelMode of inheritanceDetails
4 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DCM, Methylmalonic aciduria, mut(0) type 251000, Hypertrophic-hypocontractile cardiomyopathy, Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap, Methylmalonic aciduria, Methylmalonyl-CoA mutase deficiency (Organic acidurias), metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
METHYLMALONIC ACIDURIA TYPE MUT 251000
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
metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections., Methylmalonic aciduria, mut(0) type 251000, Methylmalonyl-CoA mutase deficiency (Organic acidurias)
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
Methylmalonic aciduria, mut(0) type, 251000, METHYLMALONIC ACIDURIA TYPE MUT