• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SIX6 (HGNC:10892) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SIX homeobox 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
OPTX2
Alias symbols
Six9
%HI
5.88(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.52(Read more about gnomAD pLI score)
LOEUF
0.6(Read more about gnomAD LOEUF score)
Cytoband
14q23.1
Genomic Coordinates
GRCh37/hg19: chr14:60975864-60979568 NCBI Ensembl UCSC
GRCh38/hg38: chr14:60509146-60512850 NCBI Ensembl UCSC
MANE Select Transcript
NM_007374.3 ENST00000327720.6 (Read more about MANE Select)
Function
May be involved in eye development. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20375
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID:15505031: Aijaz et al. (2004) analyzed 173 individuals with anophthalmia, microphthalmia, or coloboma for SIX6 mutations. They found 6 mutations, which were all also present in the 131 controls tested. PMID:15266624: Gallardo et al. (2004) analyzed 73 patients with anophthalmia/microphthalmia for mutations in SIX6. They found 4 mutations and 3 of these were present in normal controls. The fourth mutation was a thr165-to-ala missense mutation in exon 1 that was inherited from a normal father, but not found in 80 normal controls. No functional studies were performed on this missense change.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
PMID:18666230: Ou et al. (2008) report a patient with DD and MCA, including features suggestive of either branchiootorenal syndrome (BOR) or oculoauriculovertebral spectrum (OAVS). CMA revealed an ~12 Mb duplication of 14q22.3-q23.3 and a loss of ~4 Mb sequence in 13q21.31-q21.32 in the proband and his abnormal father (ID, short stature, hypernasal speech, and minor craniofacial anomalies). The authors suggest that the "increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family." The duplication of chr14 contains a total of 51 genes.

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)