Deafness and congenital structural abnormalities

Gene: SIX5

Amber List (moderate evidence)

SIX5 (SIX homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 13 panels

6 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

BOR phenotype
Created: 17 Oct 2016, 12:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Three separate autosomal dominant variants reported in three patients with Branchiootorenal syndrome 2 610896, only two of whom had ear anomolies
Created: 5 Oct 2016, 8:26 a.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Three variants reported.
Created: 20 Sep 2016, 7:10 a.m.
Comment on mode of inheritance: MOI from Decipher
Created: 20 Sep 2016, 7:10 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Red gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel. However it is rated green and diagnostic by one reviewer, therefore unsure whether this should be green due to the phenotype.
Created: 14 Oct 2016, 1:39 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
#610896:Branchiootorenal syndrome 2 [; <omim version=1.0>; <clinicalSynopsisList>]

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Branchiootorenal syndrome 2
OMIM
600963
Clinvar variants
Variants in SIX5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SIX5 were set to 10773454; 10802667; 10802668; 11978764; 14704431; 15163633; 17357085; 21280147; 7777532; 8595416; 9158137; 9241282; 9241283; 9949207

14 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Oct 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

SIX5 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory SIX5 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen SIX5 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN Model of inheritance for gene SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SIX5 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SIX5 was created by sleigh