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  1. Genes and Genomic Entities
  2. MMACHC

MMACHC

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

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red MMACHC in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type 277400

Red MMACHC in Hydrocephalus


Version 2.131
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type

Green MMACHC in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ataxia and hypogonadism
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400

    Green MMACHC in Atypical haemolytic uraemic syndrome

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.15
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

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

    Green MMACHC in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.303

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert review
    Phenotypes
    • Ataxia and hypogonadism
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400

    Green MMACHC in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad

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

    Red MMACHC in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia and hypogonadism
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400

    Green MMACHC in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Literature
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type 277400

    Green MMACHC in Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400

    Green MMACHC in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE

    Green MMACHC in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400

    Green MMACHC in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400
    • Onset infancy to adulthood
    • thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12

    Green MMACHC in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400

    Green MMACHC in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400
    • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE

    Green MMACHC in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Ataxia and hypogonadism
    • Methylmalonic aciduria and homocystinuria cblC type, 277400
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400

    Green MMACHC in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184

    Amber MMACHC in Cardiomyopathies - including childhood onset


    Version 1.76
    Latest signed off version: v1.4 (19 Feb 2020)

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

    Amber MMACHC in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Onset infancy to adulthood
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400
    • thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12

    Red MMACHC in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green MMACHC in Severe Paediatric Disorders


    Version 1.127

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblC type, 277400