NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) AND Childhood onset GLUT1 deficiency syndrome 2
- Germline classification:
- Likely benign (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:
- RCV003446095.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)]
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)
Condition(s)
- 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: Oct 20, 2024