Bilateral congenital or childhood onset cataracts
Gene: SIX6
SIX6 (SIX homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000184302
EnsemblGeneIds (GRCh37): ENSG00000184302
OMIM: 606326, Gene2Phenotype
SIX6 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000184302
EnsemblGeneIds (GRCh37): ENSG00000184302
OMIM: 606326, Gene2Phenotype
SIX6 is in 6 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Phenotypes
Microphthalmia with cataract 2, 212550
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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