MMADHC

methylmalonic aciduria and homocystinuria, cblD type
OMIM: 611935, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red MMADHC in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Red MMADHC in Neurodegenerative disorders - adult onset


Version 2.4
Signed off v.2.2 on 2 Mar 2020

review Unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Dystonia

Green MMADHC in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.418

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Homocystinuria, cblD type, variant 1 277410
  • Methylmalonic aciduria and homocystinuria, cblD type 277410
  • Methylmalonic aciduria, cblD type, variant 2 277410

Green MMADHC in Inborn errors of metabolism


Version 2.15
Signed off v.2.3 on 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
    • Homocystinuria, cblD type, variant 1

    Green MMADHC in Fetal anomalies


    Version 1.74
    Signed off v.1.2 on 17 Feb 2020

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

    Green MMADHC in DDG2P


    Version 2.9
    Signed off v.2.2 on 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 TYPE CBLD 277410

    Green MMADHC in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.143
    Signed off v.2.2 on 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, cblD type, 277410

    Green MMADHC in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.246
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410
    • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD (MMADHC)

    Red MMADHC in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Methylmalonic aciduria, cblD type, variant 2
    • Homocystinuria, cblD type, variant 1
    • Methylmalonic aciduria and homocystinuria, cblD type, 277410
    • Dystonia

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


    Version 1.8
    Signed off v.1.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Methylmalonic aciduria, cblD type, variant 2
    • Homocystinuria, cblD type, variant 1
    • Methylmalonic aciduria and homocystinuria, cblD type, 277410

    Green MMADHC in Severe Paediatric Disorders


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Homocystinuria, cblD type, variant 1, 277410
    • Methylmalonic aciduria, cblD type, variant 2, 277410
    • Methylmalonic aciduria and homocystinuria, cblD type, 277410