Congenital nystagmus

Gene: PAX6

Green List (high evidence)

PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 20 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with multiple ocular phenotypes, but nystagmus typically reported in association with these three.
Created: 25 Oct 2021, 6:47 a.m. | Last Modified: 25 Oct 2021, 6:47 a.m.
Panel Version: 0.76

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anterior segment dysgenesis 5, multiple subtypes 604229; Optic nerve hypoplasia 165550 AD; Foveal hypoplasia 1 136520 AD

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association, oculo anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. Nystagmus is a feature.
Created: 25 Oct 2021, 1:57 a.m. | Last Modified: 25 Oct 2021, 1:57 a.m.
Panel Version: 0.31

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Foveal hypoplasia 1 136520

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Anterior segment dysgenesis 5, multiple subtypes 604229
  • Optic nerve hypoplasia 165550 AD
  • Foveal hypoplasia 1 136520 AD
OMIM
607108
Clinvar variants
Variants in PAX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax6 has been classified as Green List (High Evidence).

25 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX6 were changed from Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD to Anterior segment dysgenesis 5, multiple subtypes 604229; Optic nerve hypoplasia 165550 AD; Foveal hypoplasia 1 136520 AD

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX6 were set to

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD for gene: PAX6

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX6 was added gene: PAX6 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD