Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in Adult onset movement disorderR-numbers: R56 Signed-off version 1.121 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Episodic ataxia, type 2, OMIM:108500, Spinocerebellar ataxia 6, OMIM:183086, Migraine, familial hemiplegic, 1, OMIM:141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 |
Green in Albinism or congenital nystagmusR-numbers: R39 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes CACNA1A-Related Episodic Ataxia Type 2, Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia, Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated |
Component of the following Super Panels:
Signed-off version 2.23 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Spinocerebellar ataxia 6, Episodic ataxia, type 2 |
R-numbers: R57 Signed-off version 1.137 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes familial hemiplegic migraine type 1, 141500, Dystonia, episodic ataxia type 2 (EA2), 108500 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epileptic encephalopathy, early infantile, 42, 617106, Epilepsy and migraine, Absence epilepsy, Migraine, familial hemiplegic, 1, 141500, Familial hemiplegic migraine 1 (FHM) |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes SCA6, 183086, familial hemiplegic migraine type 1, 141500, Episodic ataxia, type 2, Spinocerebellar ataxia 6, Familial hemiplegic migraine 1, 141500, Episodic ataxia type 2, 108500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, episodic ataxia type 2 (EA2),108500 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epileptic encephalopathy, early infantile, 42 617106, Episodic ataxia, type 2 108500, Migraine, familial hemiplegic, 1 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500, Spinocerebellar ataxia 6 183086 |
R-numbers: R66 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, EA2, Migraine, familial hemiplegic, 1, 141500, Episodic Ataxia, Type 2, familial hemiplegic migraine type 1, 141500, episodic ataxia type 2 (EA2),108500, Spinocerebellar ataxia 6, 183086, Episodic ataxia, type 2, 108500 |
Green in Skeletal muscle channelopathyR-numbers: R76 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Episodic ataxia 2 with periodic paralysis, Epileptic encephalopathy, early infantile, 42, 617106, Migraine, familial hemiplegic, 1, 141500, Episodic ataxia, type 2, 108500 |