Monogenic Diabetes
Gene: PAX6
Novel missense variant, p.P81S, reported in several individuals with DM. Plausible biological candidate due to functional role of PAX6 in glucose-induced insulin secretion.Created: 4 May 2024, 4:04 a.m. | Last Modified: 4 May 2024, 4:04 a.m.
Panel Version: 0.90
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
PAX6 well established gene disease association for Aniridia
No evidence of association with monogenic diabetes
PMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population
PMID: 11756345: one family with cosegregation of T2D and Aniridia with PAX6 SNPCreated: 30 Apr 2024, 5:25 a.m. | Last Modified: 30 Apr 2024, 5:25 a.m.
Panel Version: 0.52
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
aniridia MONDO:0019172
Publications
Gene: pax6 has been classified as Red List (Low Evidence).
Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to Monogenic diabetes, MONDO:0015967, PAX6-related
Publications for gene: PAX6 were set to
Gene: pax6 has been classified as Red List (Low Evidence).
gene: PAX6 was added gene: PAX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to Aniridia 106210; diabetes