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  3. BDH1
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Mitochondrial disorders

Gene: BDH1

Red List (low evidence)
BDH1 (3-hydroxybutyrate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000161267
EnsemblGeneIds (GRCh37): ENSG00000161267
OMIM: 603063, Gene2Phenotype
BDH1 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or in Gen2Phen. Two reports of minimal deleted area encompasing BDH1 in schizophrenia and heterogeneous clinical and neuropsychological features (PMIDs 29501613;21285140).
Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423

Publications

Created: 5 Aug 2019, 10:38 a.m.
Last Modified: 5 Aug 2019, 10:38 a.m.
Panel version: 1.423

Details

Sources
  • Expert list
OMIM
603063
Clinvar variants
Variants in BDH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: BDH1 were set to

5 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: BDH1 was added gene: BDH1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: BDH1 was set to