Bilateral congenital or childhood onset cataracts
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
-
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Added New Source
GEL ()PAX6 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()PAX6 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()PAX6 was added to Cataractspanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()PAX6 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen