Neuronal ceroid lipofuscinosis

Gene: GRN

Amber List (moderate evidence)

GRN (granulin precursor)
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 13 panels

1 review

Emma Ashton (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Mar 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GRN were changed from to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866

13 Feb 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: GRN was added gene: GRN was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,Expert Review Amber,NHS GMS Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal