Monogenic diabetes
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
1 review
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Also associated with aniridiaCreated: 16 Mar 2021, 2:12 p.m. | Last Modified: 16 Mar 2021, 2:12 p.m.
Panel Version: 2.27
Comment on phenotypes: Also associated with aniridiaCreated: 16 Mar 2021, 2:12 p.m. | Last Modified: 16 Mar 2021, 2:12 p.m.
Panel Version: 2.26
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- diabetes mellitus (disease), MONDO:0005015
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Ocular coloboma
- Intellectual disability
- Differences in sex development
- Corneal abnormalities
- Familial diabetes
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Sporadic aniridia
- Childhood solid tumours
- Albinism or congenital nystagmus
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PAX6 were changed from diabetes mellitus (disease), MONDO:0005015 to diabetes mellitus (disease), MONDO:0005015
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to diabetes mellitus (disease), MONDO:0005015
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PAX6 were changed from to Aniridia 106210; diabetes
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Initial gene list and info col
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: PAX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pax6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PAX6 was added gene: PAX6 was added to Monogenic diabetes. Sources: NHS GMS Mode of inheritance for gene: PAX6 was set to