Structural eye disease
Gene: SOX2
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
Mode of pathogenicity
Other - please provide details in the comments
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
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to SOX2. Mode of pathogenicity for gene SOX2 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 3 206900 for gene: SOX2 Publications for gene SOX2 were changed from 12612584, 24859618 to 12612584; 24859618
gene: SOX2 was added gene: SOX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX2 were set to 12612584, 24859618 Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 206900