Ataxia - paediatric
Gene: MMACHCEnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 19 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of vitamin metabolism.
Sources: NHS GMSCreated: 7 Feb 2021, 1:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Methylmalonic aciduria and homocystinuria cblC type, 277400
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
- Ataxia and hypogonadism
- Tags
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- None
- Panels with this gene
-
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Atypical Haemolytic Uraemic Syndrome_MPGN
- Regression
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Cerebral Palsy
- Vitamin metabolism disorders
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: MMACHC.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MMACHC was added gene: MMACHC was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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, 277400; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Ataxia and hypogonadism