Vitamin metabolism disorders

Gene: MMAB

Green List (high evidence)

MMAB (methylmalonic aciduria (cobalamin deficiency) cblB type)
EnsemblGeneIds (GRCh38): ENSG00000139428
EnsemblGeneIds (GRCh37): ENSG00000139428
OMIM: 607568, Gene2Phenotype
MMAB is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association. Inborn error of cobalamin metabolism.
Sources: Literature
Created: 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

History Filter Activity

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Apr 2024, Gel status: 1

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