Structural eye disease
Gene: STRA6
Many families reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Many families reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to STRA6. Added phenotypes Microphthalmia, syndromic 9, 601186; Microphthalmia, isolated, with coloboma 8, 601186; Syndromic Microphthalmia, Recessive for gene: STRA6 Publications for gene STRA6 were changed from 17273977, 24859618 to 24859618; 17273977
gene: STRA6 was added gene: STRA6 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRA6 were set to 17273977, 24859618 Phenotypes for gene: STRA6 were set to Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186