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Cataracts

Gene: SIX3

Red List (low evidence)

SIX3 (SIX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 12 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for holoprosencephaly (no evidence for a cataract phenotype), and on OMIM is associated with Holoprosencephaly-2 and Schizencephaly.
Created: 29 Apr 2016, 2:14 p.m.

Phenotypes
Holoprosencephaly-2; Schizencephaly

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 SIX3 were set to Holoprosencephaly-2; Schizencephaly

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SIX3 was added to Cataractspanel. Sources: UKGTN