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Hereditary ataxia, adult onset v9.15 SLC2A1 Ida Ertmanska Publications for gene: SLC2A1 were set to 10980529; 18451999; 19630075; 18577546; 20210980529; 20221955; 20687207; 4156168121955; 20687207; 41561681
Hereditary ataxia, adult onset v9.14 SLC2A1 Ida Ertmanska edited their review of gene: SLC2A1: Changed publications to: 10980529, 20221955, 20687207, 41561681
Hereditary ataxia, adult onset v9.14 SLC2A1 Ida Ertmanska edited their review of gene: SLC2A1: Changed publications to: 10980529, 20221955, 20687207, 41561681, 20687207, 41561681
Hereditary ataxia, adult onset v9.14 SLC2A1 Ida Ertmanska Publications for gene: SLC2A1 were set to 10980529; 18451999; 19630075; 18577546; 20210980529; 20221955; 20687207; 4156168121955; 20687207; 41561681
Hereditary ataxia, adult onset v9.13 SLC2A1 Ida Ertmanska Phenotypes for gene: SLC2A1 were changed from paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 2, 612126; GLUT1 deficiency syndrome 1, 606777; Dystonia 9, 601042; EPILEPSY, IDIOPATHIC GENERALIZED 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
Hereditary ataxia, adult onset v9.12 SLC2A1 Ida Ertmanska Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546
Hereditary ataxia, adult onset v9.11 SLC2A1 Ida Ertmanska Tag Q4_26_MOI tag was added to gene: SLC2A1.
Hereditary ataxia, adult onset v9.11 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. Also, both recessive cases had disease onset in early childhood. Hence, the mode of inheritance should be changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted on this panel, until more biallelic cases are reported.
Hereditary ataxia, adult onset v9.11 SLC2A1 Ida Ertmanska reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10980529, 20210980529, 20221955, 20687207, 4156168121955, 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
Hereditary ataxia, adult onset v1.9 SLC2A1 Louise Daugherty Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, 612126; GLUT1 deficiency syndrome 1, 606777 for gene: SLC2A1
Hereditary ataxia, adult onset v1.8 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia, adult onset v1.7 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 9, 601042, GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, 612126; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia, adult onset v1.2 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Hereditary ataxia, adult onset v1.1 SLC2A1 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC2A1.
Hereditary ataxia, adult onset v0.5 SLC2A1 Eleanor Williams Tag treatable tag was added to gene: SLC2A1.
Hereditary ataxia, adult onset v0.2 SLC2A1 Eleanor Williams gene: SLC2A1 was added
gene: SLC2A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1