NM_006516.4(SLC2A1):c.115-2A>C AND Encephalopathy due to GLUT1 deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003445154.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.115-2A>C]
NM_006516.4(SLC2A1):c.115-2A>C
Condition(s)
- Name:
- Encephalopathy due to GLUT1 deficiency
- Synonyms:
- De Vivo disease; Glucose transport defect, blood-brain barrier; Glucose transporter protein syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011724; MedGen: C4551966; Orphanet: 71277; OMIM: 606777
Assertion and evidence details
Last Updated: Dec 24, 2023