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  3. MMAA
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TEST Undiagnosed metabolic disorders

Gene: MMAA

Green List (high evidence)
MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type)
EnsemblGeneIds (GRCh38): ENSG00000151611
EnsemblGeneIds (GRCh37): ENSG00000151611
OMIM: 607481, Gene2Phenotype
MMAA is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
OMIM
607481
Clinvar variants
Variants in MMAA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: MMAA was added gene: MMAA was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 27604308