Monogenic hearing loss
Gene: SIX1EnsemblGeneIds (GRCh38): ENSG00000126778
EnsemblGeneIds (GRCh37): ENSG00000126778
OMIM: 601205, Gene2Phenotype
SIX1 is in 10 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:44 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#605192:Deafness, autosomal dominant 23[Hearing loss, bilateral, moderate to profound (normal to mild at low frequencies, normal to profound in middle frequencies, and moderate to profound at high frequencies)Preauricular pits (in some patients); Solitary left hypodysplastic kidney (in 1 Swiss German patient); Vesicoureteral reflux (in 1 Swiss German patient)]; #608389:Brachiootic syndrome 3[Hearing loss, progressive, mild to severeBranchial arch defectsPreauricular pitsPreauricular fistulaPreauricular tags; Lacrimal duct stenosisMondini dysplasiaWidened semicircular canals; Branchial cysts; No renal findings]
Publications
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:19 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- #605192:Deafness, autosomal dominant 23
- #608389:Brachiootic syndrome 3
- hearing loss
- Nonsyndromic Hearing Loss, Dominant
- OMIM
- 601205
- Clinvar variants
- Variants in SIX1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Monogenic hearing loss
- DDG2P
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SIX1 were set to #605192:Deafness, autosomal dominant 23; #608389:Brachiootic syndrome 3; hearing loss; Nonsyndromic Hearing Loss, Dominant
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SIX1 were set to PMID:10512683; 10773454; 10777717; 11262400; 11734542; 12368906; 12843324; 14628042; 14704789; 15141091; 15226428; 16670092; 17637804; 19389353; 19726883; 19726885; 21700001; 22267199; 7720577; 8617500; 9770533
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SIX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert