SIX6 |
- 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(Read more about gnomAD pLI score)
- LOEUF
- 0.92(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
ClinGen Curation ID:
CCID:007855
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)