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  3. MMAA
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Aminoacidopathy

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 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 19 May 2022, 1:49 a.m. | Last Modified: 19 May 2022, 1:49 a.m.
Panel Version: 0.14520

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100

Created: 19 May 2022, 1:49 a.m.
Last Modified: 19 May 2022, 1:49 a.m.
Panel version: Imported from Mendeliome panel version 0.14520

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • methylmalonic aciduria, cblA type MONDO:0009613
Tags
treatable
OMIM
607481
Clinvar variants
Variants in MMAA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MMAA.

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mmaa has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mmaa has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MMAA was added gene: MMAA was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 29152456 Phenotypes for gene: MMAA were set to methylmalonic aciduria, cblA type MONDO:0009613