Retinal disorders
Gene: MMACHCEnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 cases in the literature; therefore, there is enough evidence to support a gene-disease association. This gene has been rated Amber and should be given Green status at the next review.Created: 7 Jan 2021, 2:18 p.m. | Last Modified: 7 Jan 2021, 2:18 p.m.
Panel Version: 2.88
Zornitza Stark (Australian Genomics)
Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases.
Sources: Expert listCreated: 12 Oct 2020, 1:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Hydrocephalus
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Atypical haemolytic uraemic syndrome
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: MMACHC.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to MMACHC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mmachc has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: MMACHC.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 to Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MMACHC were set to 28481040
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: MMACHC was added gene: MMACHC was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 28481040 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Review for gene: MMACHC was set to GREEN