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Inborn errors of metabolism

Gene: DMGDH

Red List (low evidence)

DMGDH (dimethylglycine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000132837
EnsemblGeneIds (GRCh37): ENSG00000132837
OMIM: 605849, Gene2Phenotype
DMGDH is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

All studies reported to date seem to report the same case - a 38 year old male. There are also several association studies reported for cancer. Not enough evidence at this time.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
Unknown

Phenotypes
Dimethylglycine dehydrogenase deficiency 605850

Publications

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Dimethylglycine dehydrogenase deficiency 605850
  • Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
OMIM
605849
Clinvar variants
Variants in DMGDH
Penetrance
None
Publications
  • 27604308
  • 18937046 - functional study expressing the variant form in E.coli showed a decrease in activity
  • 11231903 - case study
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DMGDH. Source London North GLH was added to DMGDH.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DMGDH was added gene: DMGDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DMGDH was set to Unknown Publications for gene: DMGDH were set to 27604308; 18937046 - functional study expressing the variant form in E.coli showed a decrease in activity; 11231903 - case study Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency 605850; Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)