Gene Symbol GRN
Gene ID 2896
Chromosomal Location 17q21.32
Genomic RefSeqGene NG_007886.1 14980 bp
Transcript RefSeq NM_002087.2 2323 bp
Protein RefSeq NP_002078.1 593 aa
No. patients 3
No of families 2
Additional notes
DB Patient ID Other Patient ID Allele 1 Allele 2 Cchanges in same gene Changes in other genes Phenotype Age at onset Histology Country of origin Country of residence Reference PMID Notes
Pa-grn.001 1_III-1_Smith_2012 p.Thr272Serfs*10 p.Thr272Serfs*10 Adult NCL 22 y FPP Italy (Lombady) Smith et al, 2012 22608501
Pa-grn.002 1_III-2_Smith_2012 p.Thr272Serfs*10 p.Thr272Serfs*10 Adult NCL 23 y Italy (Lombady) Smith et al, 2012 22608501
Pa-grn-003 2_Smith_2012 p.Arg493* None Adult NCL but more likely FTLD-TDP 46 y reported but no details Smith et al, 2012 22608501 Patient probably has FTLD-TDP not NCL
Notes
C - around birth, I -  infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
Heterozygous mutations in GRN cause FTLD-TDP