Cataracts

Gene: SIX5

Red List (low evidence)

SIX5 (SIX homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000177045
EnsemblGeneIds (GRCh37): ENSG00000177045
OMIM: 600963, Gene2Phenotype
SIX5 is in 12 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

BOR has variable expressivity and penetrance. SIX5 interacts with EYA1 in c.elegans. EYA1 mutations have ben reported to be associated with cataracts, however SIX5 mutations have not (Hoskins et al, 2007, Am J Hum Genet 80:800). Krug et al (2011) suggest that these SIX5 mutations may not be cause of BOR (Hum Mutat 32:183-190).
Created: 25 May 2016, 8:11 a.m.

Phenotypes
Broanchiootorenal syndrome

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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Demoted to the red list due to expert review.
Created: 31 May 2016, 11:10 a.m.
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Branchiootorenal syndrome 2 (however I am unsure whether cataracts is involved in this disease).
Created: 29 Apr 2016, 2:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SIX5 were set to Broanchiootorenal syndrome

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SIX5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SIX5 was added to Cataractspanel. Sources: UKGTN