Ataxia - paediatric
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 20 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Not ataxia phenotypeCreated: 8 Sep 2024, 1:47 a.m. | Last Modified: 8 Sep 2024, 1:47 a.m.
Panel Version: 1.26
Krithika Murali (Victorian Clinical Genetics Services)
Variants in PAX6 cause a range of eye phenotypes.Created: 5 Apr 2022, 7:50 a.m. | Last Modified: 5 Apr 2022, 7:50 a.m.
Panel Version: 0.12573
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Coloboma of optic nerve - MIM# 120430; ?Coloboma, ocular - MIM#120200; ?Morning glory disc anomaly - MIM#120430; Aniridia - MIM#106210; Anterior segment dysgenesis 5, multiple subtypes - MIM#604229; Cataract with late-onset corneal dystrophy - MIM#106210; Foveal hypoplasia 1- MIM#136520; Keratitis - MIM#148190; Optic nerve hypoplasia - MIM#165550
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Aniridia, 106210
- Aniridia, Cerebellar Ataxia, And Mental Retardation
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- Panels with this gene
-
- Foveal Hypoplasia
- Glaucoma congenital
- Monogenic Diabetes
- BabyScreen+ newborn screening
- Congenital nystagmus
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Regression
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Polymicrogyria and Schizencephaly
- Callosome
- Ataxia - paediatric
- Autism
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pax6 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PAX6 was added gene: PAX6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX6 were set to Aniridia, 106210; Aniridia, Cerebellar Ataxia, And Mental Retardation