Genomics England

GRN

granulin precursor

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485, Aphasia, primary progressive, OMIM:607485, Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
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 Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
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 Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866