NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763915.2
Allele description [Variation Report for NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)]
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
Condition(s)
- Name:
- Hereditary cryohydrocytosis with reduced stomatin
- Synonyms:
- Stomatin-deficient cryohydrocytosis with neurologic defects; GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS
- Identifiers:
- MONDO: MONDO:0012143; MedGen: C1837206; Orphanet: 168577; OMIM: 608885
- Name:
- Dystonia 9 (DYT9)
- Synonyms:
- CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
- Identifiers:
- MONDO: MONDO:0010983; MedGen: C1832855; OMIM: 601042
- 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 19, 2025