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  3. DMGDH
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Miscellaneous Metabolic Disorders

Gene: DMGDH

Amber List (moderate evidence)
DMGDH (dimethylglycine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000132837
EnsemblGeneIds (GRCh37): ENSG00000132837
OMIM: 605849, Gene2Phenotype
DMGDH is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Apparently only 2 cases with biallelic variants reported, and in vitro functional analyses the originally reported variant (H109R)
Sources: Literature
Created: 9 Feb 2021, 12:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics

Publications

Created: 9 Feb 2021, 12:10 a.m.

Panel version: 0.335

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dimethylglycine dehydrogenase deficiency MIM#605850
  • Disorders and variants of other enzymes that oxidise xenobiotics
OMIM
605849
Clinvar variants
Variants in DMGDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dmgdh has been classified as Amber List (Moderate Evidence).

9 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dmgdh has been classified as Amber List (Moderate Evidence).

9 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DMGDH was added gene: DMGDH was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMGDH were set to 11231903; 18937046; 28881522; 27604308 Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics Review for gene: DMGDH was set to AMBER