Corneal abnormalities

Gene: PAX6

Red List (low evidence)

PAX6 (paired box 6)
EnsemblGeneIds (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

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Red List (Low Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

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

2 Mar 2017, Gel status: 4

Set publications

Chris Campbell (GEL)

Publications for PAX6 were set to 3234463;4395516;2855731

2 Mar 2017, Gel status: 4

Set mode of pathogenicity

Chris Campbell (GEL)

Mode of pathogenicity for PAX6 was changed to Other - please provide details in the comments

2 Mar 2017, Gel status: 4

Set Mode of Inheritance

Chris Campbell (GEL)

Mode of inheritance for PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PAX6 was added to Corneal abnormalitiespanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PAX6 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen