Familial diabetes
Gene: PAX6
PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
1 review
Ivone Leong (Genomics England Curator)
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
-
- NHS GMS
- Expert Review Green
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Aniridia, 106210
- diabetes
- 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
1 Mar 2019, Gel status: 4
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PAX6 were changed from to Aniridia, 106210; diabetes
1 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)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