DLX6
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DLX6 (HGNC:2919) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
distal-less homeobox 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
3.97(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.38(Read more about gnomAD LOEUF score)
Cytoband
7q21.3
Genomic Coordinates
GRCh37/hg19: chr7:96634865-96640352 NCBI Ensembl UCSC
GRCh38/hg38: chr7:97005553-97011040 NCBI Ensembl UCSC
MANE Select Transcript
NM_005222.4 ENST00000518156.3 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34868
ClinGen Curation ID:
CCID:007004
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
05/14/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • split hand-foot malformation 1 with sensorineural hearing loss Monarch
HI Evidence Comments:
Non-focal heterozygous deletions and chromosomal rearrangements involving 7q21 have been reported in patients with Split-hand/foot malformation 1 (SHFM1). As all reported deletions involving DLX6 include additional genes, the potential haploinsufficiency for DLX6 alone is not known. The minimal deleted region in SHFM1 includes the closely linked gene, DLX 5, as well as the gene SHFM1 (formerly DSS1). Concomitant haploinsufficiency for DLX5 and DLX6 is currently favored as the pathogenic mechanism for SHFM1 [See PMIDs 22342398 and 19401716 and OMIM for reviews of the literature]. Supportive evidence includes a correlative spatiotemporal gene expression pattern of DLX5 and DLX6 and similar malformation phenotypes in a mouse DLX5/DLX6 double KO model.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

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