Hereditary ataxia
Gene: PAX6
PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:10 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Very few families but seems widely accepted as cause of Gillespie.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aniridia, Cerebellar Ataxia, And Mental Retardation
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Aniridia, Cerebellar Ataxia, And Mental Retardation
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia, adult onset
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
- Pituitary hormone deficiency
- Hereditary ataxia
- Corneal abnormalities
- Ocular coloboma
- Ataxia and cerebellar anomalies - childhood onset
- Monogenic diabetes
- Differences in sex development
- Neurodegenerative disorders, adult onset
- Familial diabetes
- Albinism or congenital nystagmus
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Intellectual disability
- Childhood solid tumours
- DDG2P
- Glaucoma (developmental)
- Sporadic aniridia
- Retinal disorders
History Filter Activity
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PAX6 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services