NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814181.5
Allele description [Variation Report for NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)]
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
Condition(s)
- Name:
- Encephalopathy due to GLUT1 deficiency
- Synonyms:
- GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; De Vivo disease; Glucose transporter protein syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011724; MedGen: C4551966; Orphanet: 71277; OMIM: 606777
- Name:
- Childhood onset GLUT1 deficiency syndrome 2
- Synonyms:
- PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012805; MedGen: C1842534; Orphanet: 98811; OMIM: 612126
Assertion and evidence details
Last Updated: Jan 13, 2025