Hereditary ataxia with onset in adulthood
Gene: MMACHCEnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Evidence strong for MMA, however this does not seem to frequently feature cerebellar abnormalities or ataxia. Looks like a single family reported with ataxic phenotype (see PMID in publications). Green gene but may not be appropriate for this panelCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria cblC type, 277400
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Ataxia and hypogonadism
- Methylmalonic aciduria and homocystinuria cblC type, 277400
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Atypical haemolytic uraemic syndrome
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 for gene: MMACHC
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MMACHC.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to MMACHC.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MMACHC was added gene: MMACHC was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 26283149 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR)