For complete control over gene update notifications, ClinGen recommends you login or create an account. If you select "Remember Me" during login, ClinGen will remember your login until you manually log out.

If you cannot login at this time, enter your email address and click on submit. You will not have access to your dashboard, however, ClinGen will save your requests pending confirmationo of your email address.

Email:
Cancel Login

SIX1

Follow Gene

Gene Facts External Data Attribution

HGNC Symbol
SIX1 (HGNC:10887) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SIX homeobox 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNA23
Alias symbols
No aliases found
GenCC Classifications
Strong3 Definitive3 Supportive3 (Read more about GenCC Classifications)
%HI
1.35(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.25(Read more about gnomAD v4.0 pLI score)
LOEUF
0.69(Read more about gnomAD v4.0 LOEUF score)
pLI and LOEUF metrics based on ENST00000645694 transcript
ACMG SF v3.2 Gene?
No
Cytoband
14q23.1
Genomic Coordinates
GRCh37/hg19: chr14:61110139-61116195 NCBI Ensembl UCSC
GRCh38/hg38: chr14:60643421-60649477 NCBI Ensembl UCSC
MANE Select Transcript
NM_005982.4 ENST00000645694.3 (Read more about MANE Select)
Function
Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similarity). Depending on context, functions as a transcriptional repressor or activator (By similarity). Lacks an activation domain, and requires interaction with EYA family members for transcription activation (PubMed:15141091). Mediates nuclear translocation o... (Source: Uniprot)
Group By Activity Group By Gene-Disease Pair

Gene-Disease Validity

Gene Disease MOI Expert Panel Classification Report & Date
SIX1
branchio-oto-renal syndrome
MONDO:0007029
AD Hearing Loss GCEP Definitive 06/22/2017
Lumping and Splitting is the process by which ClinGen curation groups determine which disease entity they will use for evaluation. Groups review current disease and/or phenotype assertions (e.g. OMIM MIM phenotypes) and select the included and excluded phenotypes according to current guidelines. MIM phenotypes represented below are those that were available on the stated evaluation date.
Included MIM Phenotypes :
MIM:608389 - Branchiootic syndrome 3
Excluded MIM Phenotypes :
MIM:605192 - Deafness, autosomal dominant 23
Evaluation Date :
06/22/2017
Curation Type :
Curate a single gene-disease entity from this list (Read more about curation type)
Rationales :
No rationales were specified (Read more about curation type)
PMIDs :
No PMIDs were specified
Notes :
No Notes were specified
Expert Panel:
No Secondary Contributors were specified
History:
None
Other Stuff:
Lorem Epsum
Gene Disease Working Group HI Score & TS Score Report & Date
SIX1 Dosage Sensitivity WG 0 (No Evidence for Haploinsufficiency) 03/22/2012
0 (No Evidence for Triplosensitivity) 03/22/2012
', empty: [ '
Nothing found.
' ],/*, header: [ '
' ],*/ suggestion: function (data) { return '
' + data.label + ' ' + data.alias + ' ' + data.hgnc + '' + (data.curated ? '' : '') + '
' } }, limit: 20, minLength: 3, highlight: true, hint: false, autoselect:true, }).bind('typeahead:selected',function(evt,item){ window.location = item.url; }); $('.queryGeneName').typeahead(null, { name: 'termGeneName', display: 'label', source: termGeneName, templates: { //header: '

Header

', //footer: '
Disease has been curated by ClinGen
', empty: [ '
Nothing found.
' ],/*, header: [ '
' ],*/ suggestion: function (data) { return '
' + data.label + ' ' + data.alias + ' ' + data.hgnc + '' + (data.curated ? '' : '') + '
' } }, limit: 20, minLength: 3, highlight: true, hint: false, autoselect:true, }).bind('typeahead:selected',function(evt,item){ window.location = item.url; }); $('.queryGene').typeahead(null, { name: 'termGene', display: 'label', source: termGene, templates: { //header: '

Header

', //footer: '
Gene has been curated by ClinGen
', empty: [ '
Nothing found.
' ],/*, header: [ '
' ],*/ suggestion: function (data) { return '
' + data.label + ' ' + data.alias + ' ' + data.hgnc + '' + (data.curated ? '' : '') + '
' } }, limit: 20, minLength: 3, highlight: true, hint: false, autoselect:true, }).bind('typeahead:selected',function(evt,item){ window.location = item.url; }); $('.queryDrug').typeahead(null, { name: 'termDrug', display: 'label', source: termDrug, templates: { //header: '

Header

', //footer: '
Drug has been curated by ClinGen
', empty: [ '
Nothing found.
' ],/*, header: [ '
' ],*/ suggestion: function (data) { return '
' + data.label + ' ' + data.alias + ' ' + data.hgnc + '' + (data.curated ? '' : '') + '
' } }, limit: 20, minLength: 3, highlight: true, hint: false, autoselect:true, }).bind('typeahead:selected',function(evt,item){ window.location = item.url; });