Glaucoma (developmental)

Gene: SOX2

Green List (high evidence)

Many families reported by Fantes (2003), Ragge (2005) and other groups afterwards, one missense reported.

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 3 206900

Publications

• 12612584, 24859618

Mode of pathogenicity
Other - please provide details in the comments

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Many families reported by Fantes (2003), Ragge (2005) and other groups afterwards, one missense reported.

Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 3 206900

Publications

• 12612584
• 24859618

Mode of pathogenicity
Other - please provide details in the comments

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