Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Epilepsy, idiopathic generalized, susceptibility to, 12, 614847
- Can resemble skeletal muscle channelopathy
- GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).
- GLUT1 deficiency syndrome 2, childhood onset, 612126
- myotonia
- dystonia
|
Level 2: Viral research
Version 1.142
|
review
|
Unknown
|
Sources
- Expert Review Amber
- Expert list
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
- EPILEPSY, IDIOPATHIC GENERALIZED
- GLUT1 DEFICIENCY SYNDROME 1
- dystonia 9
Tags
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Dystonia
- GLUT1 deficiency syndrome 1, 606777
- GLUT1 deficiency syndrome 2, childhood onset
- GLUT1 deficiency syndrome 1, infantile onset, severe
- GLUT1 deficiency syndrome 1
- GLUT1 deficiency syndrome 2
|
Version 4.64
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- 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
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Stomatin-deficient cryohydrocytosis with neurologic defects 608885
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- 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
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Stomatocytosis
- Pyridoxine-refractory sideroblastic anemia
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- EPILEPSY, IDIOPATHIC GENERALIZED
- Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042
- paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
- GLUT1 deficiency syndrome 2, childhood onset, 612126
- GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Developmental delay
- seizure
- paroxysmal choreoathetosis
- spastic paraplegia
- autosomal dominant, complicated hereditary spastic paraplegia (HSP)
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia
- Pyridoxine-refractory sideroblastic anemia
- 608885 Stomatin-deficient cryohydrocytosis with neurologic defects
- Stomatocytosis
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847
- GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777
- GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
|
Version 4.43
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Green
- Literature
Phenotypes
- spastic paraplegia
- seizure
- Dystonia 9, 601042
- Developmental delay
- paroxysmal choreoathetosis
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- GLUT1 DEFICIENCY SYNDROME 1
- dystonia 9
- GLUT1 deficiency syndrome 1, infantile onset, severe
- EPILEPSY, IDIOPATHIC GENERALIZED
- Dystonia
- GLUT1 deficiency syndrome 2, childhood onset
- GLUT1 deficiency syndrome 1, 606777
- paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
- GLUT1 deficiency syndrome 1
- GLUT1 deficiency syndrome 2
- spastic paraplegia
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport)
- Cataracts
- Early onset dystonia
- Epileptic encephalopathy
- Familial Genetic Generalised Epilepsies
- Hereditary ataxia
- Intellectual disability
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Intellectual disability
- Early onset dystonia
- Cataracts
- Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport)
- Hereditary ataxia
- Epileptic encephalopathy
- Familial Genetic Generalised Epilepsies
- GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
- GLUT1 deficiency syndrome 2, childhood onset, 612126
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- GLUT1 DEFICIENCY SYNDROME TYPE 2
- GLUT1 DEFICIENCY SYNDROME TYPE 1
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- GLUT1 DEFICIENCY SYNDROME TYPE 2 612126
- GLUT1 DEFICIENCY SYNDROME TYPE 1 606777
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- UKGTN
- Expert
- Expert Review Green
Phenotypes
- Dystonia 9 601042 AD
- GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR
- GLUT1 deficiency syndrome 2, childhood onset 612126 AD
- Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD
- {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- GLUT1 deficiency syndrome 1, 606777
- GLUT1 deficiency syndrome 2, 612126
- {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847
- Dystonia 9, 601042
- GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1)
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
- Hereditary ataxia v1.148
Phenotypes
- 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
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Dystonia 9, OMIM:601042
- GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777
- GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- 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
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
- {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847
- Dystonia 9, 601042
- GLUT1 deficiency syndrome 2, childhood onset, 612126
- GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
|