Intellectual disability Victorian Clinical Genetics Services
Gene: PAX6

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

0 reviews

Details

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

607108

Clinvar variants

Variants in PAX6

Penetrance

None

Panels with this gene

Anophthalmia or microphthalmia
Bilateral congenital or childhood onset cataracts
Hereditary ataxia with onset in adulthood
Fetal anomalies
DDG2P
Ataxia and cerebellar anomalies - narrow panel
Childhood onset dystonia, chorea or related movement disorder
Hereditary ataxia
Corneal abnormalities
Monogenic diabetes
Ocular coloboma
Pituitary hormone deficiency
Sporadic aniridia
Retinal disorders
Familial diabetes
Adult onset neurodegenerative disorder
Childhood solid tumours
Intellectual disability
Differences in sex development
Glaucoma (developmental)
Albinism or congenital nystagmus
Structural eye disease

History Filter Activity

12 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PAX6 was added to Intellectual disability Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services