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Dystonia, chorea or related movement disorder, childhood onset v8.19 SLC2A1 Ida Ertmanska Tag Q4_26_MOI tag was added to gene: SLC2A1.
Dystonia, chorea or related movement disorder, childhood onset v8.19 SLC2A1 Ida Ertmanska Phenotypes for gene: SLC2A1 were changed from GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, childhood onset; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2 to GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126; childhood onset GLUT1 deficiency syndrome 2, MONDO:0012805; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; encephalopathy due to GLUT1 deficiency, MONDO:0011724; Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885
Dystonia, chorea or related movement disorder, childhood onset v8.18 SLC2A1 Ida Ertmanska Publications for gene: SLC2A1 were set to 19630075; 20301334; 18451999; 18577546
Dystonia, chorea or related movement disorder, childhood onset v8.17 SLC2A1 Ida Ertmanska commented on gene: SLC2A1: Comment on mode of inheritance: There are numerous patients reported in literature with monoallelic SLC2A1 variants and GLUT1 deficiency syndrome (characterised by early-onset epileptic encephalopathy associated with hypoglycorrhachia, delayed development, acquired microcephaly, motor incoordination, and spasticity). There are only two probands reported to date with biallelic SLC2A1 variants and GLUT1 deficiency syndrome. While their heterozygous family members were reported as asymptomatic, GLUT1DS presents with variable and often mild symptoms. Hence, the mode of inheritance should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted on this panel, until more biallelic cases are reported.
Dystonia, chorea or related movement disorder, childhood onset v8.17 SLC2A1 Ida Ertmanska reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10980529, 20221955, 20687207, 41561681; Phenotypes: GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126, childhood onset GLUT1 deficiency syndrome 2, MONDO:0012805, GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777, encephalopathy due to GLUT1 deficiency, MONDO:0011724, Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC2A1 Ellen McDonagh Source PanelApp was added to SLC2A1.
Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes GLUT1 deficiency syndrome 2, childhood onset; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2 for gene: SLC2A1
Publications for gene SLC2A1 were changed from to 19630075; 20301334; 18451999; 18577546
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to