NM_001931.5(DLAT):c.306A>G (p.Thr102=) AND Pyruvate dehydrogenase E2 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002145285.5
Allele description [Variation Report for NM_001931.5(DLAT):c.306A>G (p.Thr102=)]
NM_001931.5(DLAT):c.306A>G (p.Thr102=)
Condition(s)
- Name:
- Pyruvate dehydrogenase E2 deficiency (PDHDD)
- Synonyms:
- LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX; Dihydrolipoamide Acetyltransferase (E2) Deficiency
- Identifiers:
- MONDO: MONDO:0009502; MedGen: C1855565; Orphanet: 765; Orphanet: 79244; OMIM: 245348
Assertion and evidence details
Last Updated: Mar 5, 2024