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Mendeliome

Gene: MMACHC

Green List (high evidence)

MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 19 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Created: 7 Feb 2021, 1:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism

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
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
  • Disorders of cobalamin absorption, transport and metabolism
Tags
treatable
OMIM
609831
Clinvar variants
Variants in MMACHC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MMACHC.

19 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism

19 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MMACHC were set to

19 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMACHC was added gene: MMACHC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MMACHC was set to Unknown