Pituitary hormone deficiency
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Aniridia (106210)
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- None
- Publications
- 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
13 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: PAX6 was added gene: PAX6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX6 were set to 25342853 Phenotypes for gene: PAX6 were set to Aniridia (106210)