Monogenic Diabetes
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 20 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Hali Van Niel (University of Melbourne)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Monogenic diabetes, MONDO:0015967, PAX6-related
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Foveal Hypoplasia
- Glaucoma congenital
- Monogenic Diabetes
- BabyScreen+ newborn screening
- Congenital nystagmus
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Regression
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Polymicrogyria and Schizencephaly
- Callosome
- Ataxia - paediatric
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax6 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to Monogenic diabetes, MONDO:0015967, PAX6-related
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PAX6 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax6 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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