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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The age of onset of cblC ranges from prenatal to adult. The infantile presentation is the most frequently recognized.

Genotype-Phenotype Correlations (GeneReviews PMID: 20301503):
- Infantile-presentation (early-onset): severe disease is associated with the MMACHC pathogenic variants homozygous c.271dupA or c.331C>T or compound heterozygous for these 2 mutations.
- Noninfantile presentation (late-onset) is usually associated with MMACHC pathogenic variants c.394C>T and MMACHC c.482G>A. It may also be associated with MMACHC variant c.271dupA if individuals are compound heterozygotes for c.394C>T, c.347T>C, c.440 G>C, or c.482G>A.
Created: 14 Jan 2025, 4:49 a.m. | Last Modified: 14 Jan 2025, 4:49 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type MIM#277400

Publications

Created: 14 Jan 2025, 4:49 a.m.
Last Modified: 14 Jan 2025, 4:49 a.m.
Panel version: 1.992

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MMACHC were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) for gene: MMACHC

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMACHC was added gene: MMACHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)