This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: MMACHC
MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Atypical haemolytic uraemic syndrome
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MMACHC was added gene: MMACHC was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list 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, MIM#277400