Panel | Mode of inheritance | Details |
---|---|---|
13 panels | ||
Green in Adult onset movement disorderR-numbers: R56 Signed-off version 1.121 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Dystonia 9, OMIM:601042, GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777, GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126 |
Component of the following Super Panels:
Signed-off version 2.23 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | 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 |
Green in CataractsR-numbers: R31 Signed-off version 2.76 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects 608885 |
R-numbers: R57 Signed-off version 1.137 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | 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 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126, GLUT1 DEFICIENCY SYNDROME TYPE 1 606777 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | 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 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | 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 |
R-numbers: R61 Signed-off version 2.18 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes spastic paraplegia, seizure, Dystonia 9, 601042, Developmental delay, paroxysmal choreoathetosis |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | 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 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | 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) |
R-numbers: R66 Signed-off version 1.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | 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 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia, Pyridoxine-refractory sideroblastic anemia, 608885 Stomatin-deficient cryohydrocytosis with neurologic defects, Stomatocytosis |
Green in Skeletal muscle channelopathyR-numbers: R76 Signed-off version 1.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | 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 |