DHTKD1 Chromosome 10

Dehydrogenase E1 and transketolase domain containing 1
62 variants 62 Health Risk

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What This Gene Does
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"Oxoglutarate dehydrogenase family|Oxoadipate dehydrogenase complex subunits"
Locus Type
gene with protein product
Location
10p14
Ensembl
ENSG00000181192
Associated Conditions (10)
2-aminoadipic 2-oxoadipic aciduria
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2A2
Tip-toe gait
Inborn disorder of lysine and hydroxylysine metabolism
DHTKD1-related disorder
Charcot-Marie-Tooth disease axonal type 2Q
Thymoma
Nonpapillary renal cell carcinoma
Glioma susceptibility 1
Key Variants
RS117225135
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2A2
Health Risk
RS138884194
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Q
Health Risk
RS145427732
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
Health Risk
RS149066296
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS1564385081
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2A2, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS199541122
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS200722918
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS201455968
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS35442324
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS367981696
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS374421488
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS746248223
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
All Variants (62)
RSID Category Clinical Significance Conditions
RS117225135 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2A2
RS138884194 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Q
RS145427732 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
RS149066296 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1564385081 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2A2, 2-aminoadipic 2-oxoadipic aciduria
RS199541122 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS200722918 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS201455968 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS35442324 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
RS367981696 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
RS374421488 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder, 2-aminoadipic 2-oxoadipic aciduria
RS746248223 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS755976465 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS761529786 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
RS770649540 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease axonal type 2Q
RS779758367 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1364396346 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1588616299 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS200788729 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2131355075 Health Risk Likely pathogenic —
RS2131616447 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491494919 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS606231237 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease axonal type 2Q
RS754097253 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS757583515 Health Risk Likely pathogenic DHTKD1-related disorder, DHTKD1-related disorder
RS760767010 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, Thymoma, 2-aminoadipic 2-oxoadipic aciduria
RS762729182 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q, Charcot-Marie-Tooth disease axonal type 2Q
RS766647628 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS767066938 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS774312036 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, Nonpapillary renal cell carcinoma, 2-aminoadipic 2-oxoadipic aciduria
RS776390640 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder, 2-aminoadipic 2-oxoadipic aciduria
RS1383399355 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1564391327 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS190101915 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2131629002 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491465612 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491470714 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491475182 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491477380 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491491847 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491491951 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491492247 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491496929 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491503781 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491513673 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS373040245 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS397514534 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease axonal type 2Q
RS745432268 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS758290860 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS761024388 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
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