Callosome
Gene: MMACHCEnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 19 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Structural brain abnormalities are not typically a feature of this metabolic disorder.Created: 29 Sep 2022, 6:53 a.m. | Last Modified: 29 Sep 2022, 6:53 a.m.
Panel Version: 0.466
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mmachc has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mmachc has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MMACHC was added gene: MMACHC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MMACHC was set to Unknown