Genomics England
GMS Panels
Panels
Genes and Entities

GRN

granulin precursor
OMIM: 138945
PanelMode of inheritanceDetails
8 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
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
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
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:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
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 Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 3.4
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 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866