Regression
Gene: PAX6
PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 20 panels
1 review
Chirag Patel (Genetic Health Queensland)
No regression in phenotypes reportedCreated: 8 Sep 2024, 1:46 a.m. | Last Modified: 8 Sep 2024, 1:46 a.m.
Panel Version: 0.557
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- 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
8 Sep 2024, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pax6 has been classified as Red List (Low Evidence).
8 Sep 2024, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pax6 has been classified as Red List (Low Evidence).
8 Sep 2024, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pax6 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PAX6 was added gene: PAX6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX6 was set to Unknown