Genomics England
GMS Panels
Panels
Genes and Entities

GRN

granulin precursor
OMIM: 138945
PanelMode of inheritanceDetails
8 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.5
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 7.10
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 7.19
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 7.54
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 7.11
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 7.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 2.8
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 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866