Ataxia and cerebellar anomalies - narrow panel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aniridia, Cerebellar Ataxia, And Mental Retardation
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- 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
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PAX6 was added gene: PAX6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation