Structural eye disease
Gene: TMX3
FC - 1 paper reporting a heterozygous deletion including TMX3, inherited from unaffected mother, and 2 missense mutations in unrelated patients for which segregation analysis was not possible. Zebreafish model supports eye involvement. I would classify this gene as AMBER given the incomplete penetranceCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, coloboma, micrognathia, diaphragmatic hernia ; None
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - 1 paper reporting a heterozygous deletion including TMX3, inherited from unaffected mother, and 2 missense mutations in unrelated patients for which segregation analysis was not possible. Zebreafish model supports eye involvement. I would classify this gene as AMBER given the incomplete penetranceCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, coloboma, micrognathia, diaphragmatic hernia ; None
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: TMX3 was added gene: TMX3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TMX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMX3 were set to 20485507 Phenotypes for gene: TMX3 were set to Microphthalmia, coloboma, micrognathia, diaphragmatic hernia; None