This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Hydrocephalus
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- 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
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)MMACHC was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)MMACHC was created by Sarah Leigh