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 4
No of families 3
Additional notes
DB Patient ID Other Patient ID Allele 1 Allele 2 Changes in same gene Changes in other genes Phenotype Progression 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   22 y FPP Italy (Lombady)   Smith et al, 2012 22608501 siblings
Pa-grn.002 1_III-2_Smith_2012 p.(Thr272Serfs*10) p.(Thr272Serfs*10)     adult   23 y   Italy (Lombady)   Smith et al, 2012 22608501 siblings
Pa-grn-003 2_Smith_2012 p.(Arg493*) None adult 46 y reported but no details Smith et al, 2012 22608501 Patient probably has FTLD-TDP not NCL
Pa-grn-004 III1 p.(Ser301Cysfs*60) p.(Ser301Cysfs*60) adult 25 y Portugal Almeida et al.  (2016)  27021778 in family with FTLD. Diagnosis at 35 y
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 or ALS