KCTD7
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KCTD7 (HGNC:21957) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
potassium channel tetramerization domain containing 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ32069, EPM3, CLN14
%HI
35.12(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.9(Read more about gnomAD LOEUF score)
Cytoband
7q11.21
Genomic Coordinates
GRCh37/hg19: chr7:66093868-66108216 NCBI Ensembl UCSC
GRCh38/hg38: chr7:66628881-66643229 NCBI Ensembl UCSC
MANE Select Transcript
NM_153033.5 ENST00000639828.2 (Read more about MANE Select)
Function
May be involved in the control of excitability of cortical neurons. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22014
ClinGen Curation ID:
CCID:007358
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:
  • progressive myoclonus epilepsy Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)