Childhood solid tumours
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: Only associated with Wilm's as part of WAGR which is a contiguous gene syndrome including deletion of WT1.Created: 14 Feb 2016, 5:31 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- 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
- Wagner Syndrome
- Aniridia
- PAX6-related Disorders
- Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Albinism or congenital nystagmus
- Differences in sex development
- Ocular coloboma
- Corneal abnormalities
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Structural eye disease
- Childhood solid tumours
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Sporadic aniridia
- Familial diabetes
- Pituitary hormone deficiency
- Monogenic diabetes
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hereditary ataxia
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - narrow panel
- Anophthalmia or microphthalmia
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen