Familial diabetesGene: PAX6
Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Created: 28 Jan 2019, 9:40 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PAX6; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Aniridia and diabetes.
Created: 11 Jan 2019, 10:04 a.m.
Phenotypes for gene: PAX6 were changed from to Aniridia, 106210; diabetes
gene: PAX6 was added gene: PAX6 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown