Hyperammonaemia
Gene: MMACHCEnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria cblC type
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported. This gene may not be relevant for this panel as the phenotype does not include hyperammonaemiaCreated: 18 Aug 2016, 12:19 p.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Methylmalonic aciduria and homocystinuria, cblC type 277400
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- Complete
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type 277400
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MMACHC was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)MMACHC was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)MMACHC was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory