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  2. Intellectual_disability
  3. MMADHC
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Intellectual_disability

Gene: MMADHC

Red List (low evidence)
MMADHC (methylmalonic aciduria and homocystinuria, cblD type)
EnsemblGeneIds (GRCh38): ENSG00000168288
EnsemblGeneIds (GRCh37): ENSG00000168288
OMIM: 611935, Gene2Phenotype
MMADHC is in 10 panels

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Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410
  • Intellectual disability
OMIM
611935
Clinvar variants
Variants in MMADHC
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MMADHC was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MMADHC was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen