MMADHC

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

10 panels

Panel Reviews Mode of inheritance Details
10 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 2.0

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 1.413

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 2.2

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 1.0

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

Green MMADHC in DDG2P


Version 2.0

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 2.0

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 3.0

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 1.0

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 1.0

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