PanelApp
  1. Genes and Genomic Entities
  2. MMACHC

MMACHC

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
OMIM: 609831, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Amber MMACHC in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400

Green MMACHC in Mendeliome


Version 1.2656

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
  • Disorders of cobalamin absorption, transport and metabolism
Tags
  • treatable

Green MMACHC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.157

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
    Tags
    • treatable

    Red MMACHC in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.545

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400

    Green MMACHC in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.581

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MMACHC in Atypical Haemolytic Uraemic Syndrome_MPGN


    Level 2: Renal and urinary tract disorders
    Version 0.54

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
    Tags
    • treatable

    Green MMACHC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.174

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
    Tags
    • treatable

    Green MMACHC in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.38

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Methylmalonic aciduria and homocystinuria cblC type, 277400
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400
    • Ataxia and hypogonadism
    Tags
    • treatable

    Green MMACHC in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.227

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
    Tags
    • treatable

    Green MMACHC in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)

    Green MMACHC in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
    Tags
    • treatable

    Amber MMACHC in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.197

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Amber
    • South West GLH
    • NHS GMS
    Phenotypes
    • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
    • Methylmalonic aciduria
    • DCM
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400
    • Hypertrophic-hypocontractile cardiomyopathy

    Green MMACHC in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type

    Green MMACHC in Fetal anomalies


    Version 1.370

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400)

    Green MMACHC in Prepair 1000+


    Level 2: Screening
    Version 2.13

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400

    Green MMACHC in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.135

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • methylmalonic aciduria and homocystinuria type cblC MONDO:0010184

    Green MMACHC in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
    Tags
    • treatable
    • metabolic

    Green MMACHC in Prepair 500+


    Level 2: Screening
    Version 2.0

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400

    Green MMACHC in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
    • Disorders of cobalamin absorption, transport and metabolism
    Tags
    • treatable