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  3. MMACHC
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Stroke

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)

Large artery atherosclerosis, large artery non-atherosclerosis with dissections, coagulation pathology venous thrombosis, and coagulation pathology arterial thrombosis are stroke subtypes reported in this condition.
Sources: Literature
Created: 29 Apr 2020, 9 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type MIM#277400

Publications

Created: 29 Apr 2020, 9 a.m.

Panel version: 0.2

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.

12 Mar 2021, 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).

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MMACHC was added gene: MMACHC was added to Stroke. Sources: Literature Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 12552044; 11742888; 30356112 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Review for gene: MMACHC was set to GREEN