Ataxia and cerebellar anomalies - childhood onset
Gene: MMACHCEnsemblGeneIds (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 Review Green
- Phenotypes
-
- Ataxia and hypogonadism
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Atypical haemolytic uraemic syndrome
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Fetal anomalies
- Hydrocephalus
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- DDG2P
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: MMACHC were set to PMID: 26283149
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MMACHC was added gene: MMACHC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to PMID: 26283149 Phenotypes for gene: MMACHC were set to Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)