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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Diseases (C)
Parent Node: Dystonia (D004421)
Parent Node: Dystonia 18 (C564288)
..Starting node ..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Child Nodes:
Sister Nodes:
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4687

Name:

GLUT1 DEFICIENCY SYNDROME 2

Definition:

Alternative IDs:

ParentIDs:

MESH:C564288|MESH:D004421

TreeNumbers:

C10.228.662.300/C564288/612126 |C10.597.350.300/612126 |C23.888.592.350.300/612126

Synonyms:

DYSTONIA 18 |DYT18 |GLUT1DS2 |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

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: 612126
MeSH: 612126
OMIM: 612126;

Genes: SLC2A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001251	Ataxia
3	HP:0002059	Cerebral atrophy
4	HP:0001266	Choreoathetosis
5	HP:0100543	Cognitive impairment
6	HP:0100660	Dyskinesia
7	HP:0001332	Dystonia
8	HP:0002353	EEG abnormality
9	HP:0001263	Global developmental delay
10	HP:0011972	Hypoglycorrhachia
11	HP:0003829	Incomplete penetrance
12	HP:0000737	Irritability	HP:0040283
13	HP:0002076	Migraine	HP:0040283
14	HP:0001923	Reticulocytosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_006516.2(SLC2A1):c.940G>A (p.Gly314Ser)	6513	SLC2A1	Pathogenic	121909739	RCV000179919; RCV000017493; RCV000179920; RCV000153967;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811; MedGen:C1847501,OMIM:606777,ORPHA:71277; MedGen:C3553859,OMIM:614847; MedGen:CN221809	1	43394913	43394913	NM_006516.2:c.940G>A	NP_006507.2:p.Gly314Ser	NC_000001.10:g.43394913C>T	HGMD:CM081811,OMIM Allelic Variant:138140.0009	C3553859 614847 Epilepsy, idiopathic generalized, susceptibility to, 12; C1847501 606777 Glucose transporter type 1 deficiency syndrome; C1842534 612126 GLUT1 deficiency syndrome 2; CN221809 not provided
NM_006516.2(SLC2A1):c.938C>T (p.Ser313Phe)	6513	SLC2A1	Likely pathogenic	794727870	RCV000209836;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811	1	43394915	43394915	NM_006516.2:c.938C>T	NP_006507.2:p.Ser313Phe		-	C1842534 612126 GLUT1 deficiency syndrome 2
NM_006516.2(SLC2A1):c.823G>A (p.Ala275Thr)	6513	SLC2A1	Pathogenic	121909740	RCV000147534; RCV000017494; RCV000189361;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811; MedGen:C1847501,OMIM:606777,ORPHA:71277; MedGen:CN221809	1	43395308	43395308	NM_006516.2:c.823G>A	NP_006507.2:p.Ala275Thr	NC_000001.10:g.43395308C>T	OMIM Allelic Variant:138140.0010	C1847501 606777 Glucose transporter type 1 deficiency syndrome; C1842534 612126 GLUT1 deficiency syndrome 2; CN221809 not provided
NM_006516.2(SLC2A1):c.517-1G>C	6513	SLC2A1	Uncertain significance	869312673	RCV000209843;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811	1	43395707	43395707	NM_006516.2:c.517-1G>C		NC_000001.10:g.43395707C>G	-	C1842534 612126 GLUT1 deficiency syndrome 2
NM_006516.2(SLC2A1):c.376C>T (p.Arg126Cys)	6513	SLC2A1	Pathogenic	80359818	RCV000017498; RCV000030838; RCV000030839; RCV000178276; RCV000081431;	N	Gene:1433,MedGen:C1832855,OMIM:601042,ORPHA:53583; MedGen:C1842534,OMIM:612126,ORPHA:98811; MedGen:C1847501,OMIM:606777,ORPHA:71277; MedGen:C3553859,OMIM:614847; MedGen:CN221809	1	43396437	43396437	NM_006516.2:c.376C>T	NP_006507.2:p.Arg126Cys	NC_000001.10:g.43396437G>A	HGMD:CM044064,OMIM Allelic Variant:138140.0014	C1832855 601042 Choreoathetosis/spasticity, episodic; C3553859 614847 Epilepsy, idiopathic generalized, susceptibility to, 12; C1847501 606777 Glucose transporter type 1 deficiency syndrome; C1842534 612126 GLUT1 deficiency syndrome 2; CN221809 not prov
NM_006516.2(SLC2A1):c.283_284delTCinsAT (p.Ser95Ile)	6513	SLC2A1	Pathogenic	267607060	RCV000017496;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811	1	43396529	43396530	NM_006516.2:c.283_284delTCinsAT	NP_006507.2:p.Ser95Ile	NC_000001.10:g.43396529_43396530delGAinsAT	OMIM Allelic Variant:138140.0012	C1842534 612126 GLUT1 deficiency syndrome 2
NM_006516.2(SLC2A1):c.277C>T (p.Arg93Trp)	6513	SLC2A1	Pathogenic	267607061	RCV000030922;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811	1	43396536	43396536	NM_006516.2:c.277C>T	NP_006507.2:p.Arg93Trp	NC_000001.10:g.43396536G>A	OMIM Allelic Variant:138140.0013	C1842534 612126 GLUT1 deficiency syndrome 2
NM_006516.2(SLC2A1):c.274C>T (p.Arg92Trp)	6513	SLC2A1	Pathogenic	202060209	RCV000017499;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811	1	43396718	43396718	NM_006516.2:c.274C>T	NP_006507.2:p.Arg92Trp	NC_000001.10:g.43396718G>A,NC_000001.10:g.43396718G>T	OMIM Allelic Variant:138140.0015	C1842534 612126 GLUT1 deficiency syndrome 2
NM_006516.2(SLC2A1):c.101A>T (p.Asn34Ile)	6513	SLC2A1	Pathogenic	80359812	RCV000030921;	N	MedGen:C1842534,OMIM:612126,ORPHA:98811	1	43408910	43408910	NM_006516.2:c.101A>T	NP_006507.2:p.Asn34Ile	NC_000001.10:g.43408910T>A	OMIM Allelic Variant:138140.0011	C1842534 612126 GLUT1 deficiency syndrome 2