Newborns additional phenotypes panel 1
Gene: MMADHCEnsemblGeneIds (GRCh38): ENSG00000168288
EnsemblGeneIds (GRCh37): ENSG00000168288
OMIM: 611935, Gene2Phenotype
MMADHC is in 10 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Multiple phenotypes with same MOI included.
Additional Information: Gene is associated with three phenotypes; isolated methylmalonic aciduria, isolated homocystinuria, combined methylmalonic aciduria and homocystinuria. See PMID: 22156578 for information on genotype phenotype correlation. Biochemical testing after return of results will confirm the phenotype.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 19 Nov 2025, 11:55 a.m.
Panel Version: 0.102
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.29
PMID: 18385497 (2 cases) PMID: 22156578 (3 cases) PMID: 30334532 (1 case)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Methylmalonic aciduria, cblD type, variant 2
- Tags
- OMIM
- 611935
- Clinvar variants
- Variants in MMADHC
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Early onset dystonia
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- DDG2P
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: MMADHC.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: MMADHC were changed from Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type, variant 2 to Methylmalonic aciduria, cblD type, variant 2
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type for gene: MMADHC
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to MMADHC. Added phenotypes Methylmalonic aciduria, cblD type, variant 2 for gene: MMADHC Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: MMADHC was added gene: MMADHC was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria, cblD type, variant 2