Genomics England

CSTB

cystatin B

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800, Unverricht-Lundborg syndrome MONDO:0009698
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800, Unverricht-Lundborg syndrome MONDO:0009698
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes UNVERRICHT-LUNDBORG DISEASE 254800
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800