SLC2A1

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Green SLC2A1 in Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Version 0.57	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hemiplegic migraine
Green SLC2A1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC2A1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Disorders of glucose transport
Green SLC2A1 in Brain Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.3 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GLUT1-deficiency syndrome, MONDO:0000188 Dystonia 9 601042 GLUT1 deficiency syndrome 1, infantile onset, severe 606777 GLUT1 deficiency syndrome 2, childhood onset 612126 Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Green SLC2A1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777 Dystonia 9, MIM#601042 Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885 GLUT1 deficiency syndrome 2, childhood onset, MIM#612126 {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847
Green SLC2A1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777
Green SLC2A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126
Green SLC2A1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC2A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green SLC2A1 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome MONDO:0000188
Green SLC2A1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes dystonia 9 GLUT1 deficiency syndrome 2, 612126 GLUT1 DEFICIENCY SYNDROME 1 paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia GLUT1 deficiency syndrome 1, 606777 Dystonia 9, 601042 EPILEPSY, IDIOPATHIC GENERALIZED
Green SLC2A1 in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.37 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 9, MIM# 601042 MONDO:0010983
Green SLC2A1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 Developmental delay autosomal dominant, complicated hereditary spastic paraplegia (HSP) paroxysmal choreoathetosis spastic paraplegia seizure
Green SLC2A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes GLUT1 deficiency syndrome 1
Green SLC2A1 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885 delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia haemolytic anaemia
Green SLC2A1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Disorders of glucose transport
Red SLC2A1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777
Green SLC2A1 in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources GREP Expert Review Green Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
Green SLC2A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847 GLUT1 deficiency syndrome 2, childhood onset, 612126 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 Tags treatable neurological

SLC2A1

19 panels

Green SLC2A1 in Alternating Hemiplegia and Hemiplegic Migraine

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Phenotypes

Green SLC2A1 in Cataract

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Green SLC2A1 in Cerebral Palsy

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Phenotypes

Green SLC2A1 in Brain Channelopathies

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Phenotypes

Green SLC2A1 in Mendeliome

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Phenotypes

Green SLC2A1 in Microcephaly

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Phenotypes

Green SLC2A1 in Genetic Epilepsy

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Phenotypes

Green SLC2A1 in Regression

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Green SLC2A1 in Intellectual disability syndromic and non-syndromic

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Green SLC2A1 in Paroxysmal Dyskinesia

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Phenotypes

Green SLC2A1 in Ataxia - paediatric

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Phenotypes

Green SLC2A1 in Dystonia - isolated/combined

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Phenotypes

Green SLC2A1 in Hereditary Spastic Paraplegia - paediatric

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Phenotypes

Green SLC2A1 in Additional findings_Paediatric

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Phenotypes

Green SLC2A1 in Red cell disorders

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Phenotypes

Green SLC2A1 in Miscellaneous Metabolic Disorders

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Phenotypes

Red SLC2A1 in Fetal anomalies

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Phenotypes

Green SLC2A1 in Familial Generalised Epilepsy

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Phenotypes

Green SLC2A1 in BabyScreen+ newborn screening

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Phenotypes

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