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Cataracts

Gene: SOX2

Red List (low evidence)

SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 19 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

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: Added to the red list due to expert review.
Created: 31 May 2016, 11:24 a.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for AEG syndrome and Microphthalmia syndromic Type 3. Associated with Microphthalmia, syndromic 3 and Optic nerve hypoplasia and abnormalities of the central nervous system in OMIM. It is unclear whether cataracts is a feature of these diseases.
Created: 29 Apr 2016, 2:32 p.m.

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

History Filter Activity

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SOX2 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).

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 ()

SOX2 was added to Cataractspanel. Sources: UKGTN