Aminoacidopathy
Gene: DMGDH
DMGDH (dimethylglycine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000132837
EnsemblGeneIds (GRCh37): ENSG00000132837
OMIM: 605849, Gene2Phenotype
DMGDH is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000132837
EnsemblGeneIds (GRCh37): ENSG00000132837
OMIM: 605849, Gene2Phenotype
DMGDH is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004660
Reported in one individual with abnormal choline metabolism.
Sources: ClinGenCreated: 23 May 2024, 11:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dimethylglycine dehydrogenase deficiency MONDO:0011610
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- dimethylglycine dehydrogenase deficiency MONDO:0011610
- OMIM
- 605849
- Clinvar variants
- Variants in DMGDH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dmgdh has been classified as Red List (Low Evidence).
24 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dmgdh has been classified as Red List (Low Evidence).
23 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: DMGDH was added gene: DMGDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMGDH were set to 11231903 Phenotypes for gene: DMGDH were set to dimethylglycine dehydrogenase deficiency MONDO:0011610 Review for gene: DMGDH was set to RED