Corneal abnormalities
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
2 reviews
Chris Campbell (GEL)
Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel. This gene causes predominantly aniridia or Peters anomaly.Created: 3 Mar 2017, 9:47 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed with Chris Campbell and Manchester GDL and corneal abnormalities seems to be a secondary feature - would present initially with aniridia.Created: 22 Feb 2017, 10:04 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Morning glory disc anomaly 120430
- Aniridia 106210
- Cataract with late-onset corneal dystrohpy 106210
- Coloboma of optic nerve 120430
- Coloboma ocular 120200
- Foveal hypoplasia 1 136520
- Gillespie syndrome 206700
- Keratitis 148190
- Optic nerve hypoplasia 165550
- Peters anomaly 604229
- Anterior segment dysgenesis 5, multiple subtypes 604229
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Monogenic diabetes
- Ocular coloboma
- Structural eye disease
- Differences in sex development
- Corneal abnormalities
- Familial diabetes
- Childhood solid tumours
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Sporadic aniridia
- Albinism or congenital nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Retinal disorders
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Fetal anomalies
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Chris Campbell (GEL)Phenotypes for PAX6 were set to ?Morning glory disc anomaly 120430; Aniridia 106210; Cataract with late-onset corneal dystrohpy 106210; Coloboma of optic nerve 120430; Coloboma ocular 120200; Foveal hypoplasia 1 136520; Gillespie syndrome 206700; Keratitis 148190; Optic nerve hypoplasia 165550; Peters anomaly 604229; Anterior segment dysgenesis 5, multiple subtypes 604229
Set publications
Chris Campbell (GEL)Publications for PAX6 were set to 3234463;4395516;2855731
Set mode of pathogenicity
Chris Campbell (GEL)Mode of pathogenicity for PAX6 was changed to Other - please provide details in the comments
Set Mode of Inheritance
Chris Campbell (GEL)Mode of inheritance for PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Chris Campbell (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()PAX6 was added to Corneal abnormalitiespanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()PAX6 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen