GRN

granulin precursor
OMIM: 138945
PanelMode of inheritanceDetails
6 panels
R-numbers: R56
Signed-off version 3.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
R-numbers: R58
Signed-off version 5.0
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866
R-numbers: R32
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866