Ocular coloboma
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
1 review
Alice Gardham (Genomics England)
More often associated with aniridia but can cause microphthalmia colobomaCreated: 16 Nov 2016, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coloboma of optic nerve, 120430; Aniridia, 106210
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
- 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
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- Complete
- Publications
- 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
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Set publications
Alice Gardham (Genomics England)Publications for PAX6 were set to 12721955, 24859618
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Changed Gene Name
Alice Gardham (Genomics England)PAX6 was changed to PAX6
Upload gene information
Alice Gardham (Genomics England)PAX6 was added to Ocular colobomapanel. Sources: Literature,Radboud University Medical Center, Nijmegen
clearsources
Alice Gardham (Genomics England)PAX6All sources for gene: PAX6 were removed
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen