NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) AND Childhood onset GLUT1 deficiency syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001542521.2
Allele description [Variation Report for NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)]
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
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
-
TTC33 tetratricopeptide repeat domain 33 [Homo sapiens]
TTC33 tetratricopeptide repeat domain 33 [Homo sapiens]Gene ID:23548Gene
-
METAP1 [Oryctolagus cuniculus]
METAP1 [Oryctolagus cuniculus]Gene ID:100351430Gene
-
100351430[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Feb 20, 2024