1. Panels
  2. Bilateral congenital or childhood onset cataracts
  3. OTX2
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Bilateral congenital or childhood onset cataracts

Gene: OTX2

Red List (low evidence)
OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 16 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Created: 2 Jun 2016, 1:20 p.m.

Panel version: 0.281

Ellen McDonagh (Genomics England Curator)

I don't know

Comment when marking as ready: Kept in the red list due to expert review.
Created: 2 Jun 2016, 1:51 p.m.
Not on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 5, which includes a cataract phenotype.
Created: 29 Apr 2016, 12:53 p.m.

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

Created: 29 Apr 2016, 12:53 p.m.

Panel version: 0.0

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 OTX2 were set to confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 5

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for OTX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

OTX2 was added to Cataractspanel. Sources: UKGTN