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Cataracts

Gene: SIX6

Red List (low evidence)

SIX6 (SIX homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000184302
EnsemblGeneIds (GRCh37): ENSG00000184302
OMIM: 606326, Gene2Phenotype
SIX6 is in 5 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Phenotypes
Microphthalmia with cataract 2, 212550

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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Demoted due to expert review.
Created: 31 May 2016, 11:11 a.m.
Is on the Manchester congenital cataracts gene panel. It is a possible DD gene for microphthalmia, isolated, with cataract 2. A variant in OMIM that was originally associated with microphthalmia, isolated, with cataract 2 has been reclassified as a variant of unknown significance.
Created: 25 Apr 2016, 9:58 a.m.

Details

Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia with cataract 2, 212550
OMIM
606326
Clinvar variants
Variants in SIX6
Penetrance
Complete
Panels with this gene

History Filter Activity

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).

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).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SIX6 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SIX6 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen