Hereditary ataxia
Gene: MMACHCEnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
2 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: Good evidence for methylmalonic aciduriaCreated: 11 Jul 2016, 5:40 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Only a single family with the ataxia/hypogonadism phenotype reported. However variants look goodCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)
Publications
- PMID: 26283149
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
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)MMACHC was created by jonathan.williams
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)MMACHC was added to Hereditary ataxiapanel. Sources: Expert review