Cataracts

Gene: PAX6

Green List (high evidence)

PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Morning glory disc anomaly, 120430Aniridia, 106210Cataract with late-onset corneal dystrohpy, 106210Coloboma of optic nerve, 120430Coloboma, ocular, 120200Foveal hypoplasia 1, 136520Gillespie syndrome, 206700Keratitis, 148190Optic nerve hypoplasia, 165550Peters anomaly, 604229; Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization; Optic Nerve Malformations; Foveal Hypoplasia and Presenile Cataract Syndrome

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for aniridia (with phenotypes including cataracts). Associated with Cataract with late-onset corneal dystrophy in OMIM.
Created: 25 Apr 2016, 8:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • 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
  • Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization
  • Optic Nerve Malformations
  • Foveal Hypoplasia and Presenile Cataract Syndrome
OMIM
607108
Clinvar variants
Variants in PAX6
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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; Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization; Optic Nerve Malformations; Foveal Hypoplasia and Presenile Cataract Syndrome

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

PAX6 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

PAX6 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PAX6 was added to Cataractspanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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