Aminoacidopathy
Gene: MMABEnsemblGeneIds (GRCh38): ENSG00000139428
EnsemblGeneIds (GRCh37): ENSG00000139428
OMIM: 607568, Gene2Phenotype
MMAB is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 19 May 2022, 1:51 a.m. | Last Modified: 19 May 2022, 1:51 a.m.
Panel Version: 0.14522
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Victorian Clinical Genetics Services
- Phenotypes
-
- methylmalonic aciduria, cblB type MONDO:0009614
- Tags
- OMIM
- 607568
- Clinvar variants
- Variants in MMAB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: MMAB.
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 Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 29152456 Phenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614