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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
MMAA curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, cblA type
OMIM
607481
Clinvar variants
Variants in MMAA
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type for gene: MMAA

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type for gene: MMAA

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type for gene: MMAA

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type for gene: MMAA

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type for gene: MMAA

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MMAA was added gene: MMAA was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal