Anophthalmia or microphthalmia
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
David FitzPatrick (University of Edinburgh)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expertCreated: 10 May 2016, 11:45 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Anophthalmia
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Differences in sex development
- Intellectual disability
- Anophthalmia or microphthalmia
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Corneal abnormalities
- Pituitary hormone deficiency
- Sporadic aniridia
- Ocular coloboma
- Monogenic diabetes
- Fetal anomalies
- Familial diabetes
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Albinism or congenital nystagmus
- Childhood solid tumours
- Retinal disorders
- Glaucoma (developmental)
History Filter Activity
10 May 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).
10 May 2016, Gel status: 2
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Apr 2015, Gel status: 2
Added New Source
GEL ()PAX6 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory
28 Apr 2015, Gel status: 1
Added New Source
GEL ()PAX6 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services