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  2. Hyperammonaemia
  3. MMAB
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Hyperammonaemia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 19 May 2022, 1:51 a.m.
Last Modified: 19 May 2022, 1:51 a.m.
Panel version: Imported from Mendeliome panel version 0.14522

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Tags
treatable
OMIM
607568
Clinvar variants
Variants in MMAB
Penetrance
None
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: MMAB.

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMAB was added gene: MMAB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110