Glaucoma (developmental)
Gene: PAX6EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels
3 reviews
Zornitza Stark (Australian Genomics)
Glaucoma is a feature: the panel descriptor even specifically recommends prior testing of this gene.Created: 2 Aug 2020, 8:55 a.m. | Last Modified: 2 Aug 2020, 8:55 a.m.
Panel Version: 1.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Many cases published with aniridia, also quite a few with anophthalmia/microphthalmia. Missense variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anophthalmia; Gillespie syndrome, 206700; Cataract with late-onset corneal dystrohpy, 106210; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Peters anomaly, 604229; Coloboma of optic nerve, 120430; Aniridia 106210; Foveal hypoplasia 1, 136520; Keratitis, 148190; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200
Publications
- 12552561
- 11826019
- 11553050
- 17406642
- 7666404
- 17595013
- 8111379
- 7550230
- 7951315
- 9931324
- 1302030
- 19876904
- 17148041
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Green. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 16 Apr 2021, 2:07 p.m. | Last Modified: 16 Apr 2021, 2:07 p.m.
Panel Version: 1.31
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Many cases published with aniridia, also quite a few with anophthalmia/microphthalmia. Missense variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anophthalmia; Gillespie syndrome, 206700; Cataract with late-onset corneal dystrohpy, 106210; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Peters anomaly, 604229; Coloboma of optic nerve, 120430; Aniridia 106210; Foveal hypoplasia 1, 136520; Keratitis, 148190; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200
Publications
- 12552561
- 11826019
- 11553050
- 17406642
- 7666404
- 17595013
- 8111379
- 7550230
- 7951315
- 9931324
- 1302030
- 19876904
- 17148041
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- aniridia
- OMIM
- 607108
- Clinvar variants
- Variants in PAX6
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Ocular coloboma
- Intellectual disability
- Differences in sex development
- Corneal abnormalities
- Familial diabetes
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Sporadic aniridia
- Childhood solid tumours
- Albinism or congenital nystagmus
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: PAX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pax6 has been classified as Green List (High Evidence).
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Ellen McDonagh (Genomics England Curator)PAX6 was added to Glaucoma (developmental)panel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)PAX6 was added to Glaucoma (developmental)panel. Sources: Eligibility Statements for GeL