MMUT

methylmalonyl-CoA mutase
OMIM: 609058, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red MMUT in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Methylmalonic aciduria, MIM#251000
Green MMUT in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags new gene name treatable
Green MMUT in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green MMUT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags treatable
Green MMUT in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, mut(0) type, 251000 (3) Tags new gene name
Green MMUT in Stroke Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000 Tags treatable
Green MMUT in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet South West GLH NHS GMS Phenotypes Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap Methylmalonic aciduria Methylmalonic aciduria, mut(0) type 251000 DCM Methylmalonyl-CoA mutase deficiency (Organic acidurias) Hypertrophic-hypocontractile cardiomyopathy metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Tags treatable
Green MMUT in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria, mut(0) type
Green MMUT in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, mut(0) type 251000
Green MMUT in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000
Green MMUT in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612
Green MMUT in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags treatable metabolic
Green MMUT in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000
Green MMUT in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000
Green MMUT in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612