CLN8
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CLN8 (HGNC:2079) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CLN8 transmembrane ER and ERGIC protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EPMR, C8orf61
Alias symbols
FLJ39417, TLCD6
%HI
76.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.18(Read more about gnomAD LOEUF score)
Cytoband
8p23.3
Genomic Coordinates
GRCh37/hg19: chr8:1711955-1734736 NCBI Ensembl UCSC
GRCh38/hg38: chr8:1753059-1786570 NCBI Ensembl UCSC
MANE Select Transcript
NM_018941.4 ENST00000331222.6 (Read more about MANE Select)
Function
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. {ECO:0000269|PubMed:19431184}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10513
ClinGen Curation ID:
CCID:006881
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • neuronal ceroid lipofuscinosis 8 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)