MMAA

methylmalonic aciduria (cobalamin deficiency) cblA type
OMIM: 607481, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MMAA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive 251100

Green MMAA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.457

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism)
  • Methylmalonic aciduria, vitamin B12-responsive 251100

Green MMAA in Inborn errors of metabolism


Version 2.131
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, vitamin B12-responsive 251100
    • Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism)

    Red MMAA in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • METHYLMALONIC ACIDURIA TYPE CBLA

    Green MMAA in DDG2P


    Version 2.27
    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 TYPE CBLA 251100

    Green MMAA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1069
    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, vitamin B12-responsive, 251100
    • METHYLMALONIC ACIDURIA TYPE CBLA

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


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

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

    Green MMAA in Severe Paediatric Disorders


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Methylmalonic aciduria, vitamin B12-responsive, 251100