Vitamin metabolism disorders
Gene: MMABEnsemblGeneIds (GRCh38): ENSG00000139428
EnsemblGeneIds (GRCh37): ENSG00000139428
OMIM: 607568, Gene2Phenotype
MMAB is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. Inborn error of cobalamin metabolism.
Sources: LiteratureCreated: 2 Apr 2024, 9:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
methylmalonic aciduria, cblB type MONDO:0009614
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- methylmalonic aciduria, cblB type MONDO:0009614
- OMIM
- 607568
- Clinvar variants
- Variants in MMAB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mmab has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mmab has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MMAB was added gene: MMAB was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 12471062; 20556797; 35712814; 24813872 Phenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614 Review for gene: MMAB was set to GREEN gene: MMAB was marked as current diagnostic