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Retinal disorders v8.61 PAX6 Achchuthan Shanmugasundram Mode of inheritance for gene: PAX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v8.59 PAX6 Achchuthan Shanmugasundram Classified gene: PAX6 as Amber List (moderate evidence)
Retinal disorders v8.59 PAX6 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are multiple families reported with foveal hypoplasia and with monoallelic PAX6 variants. However, expert opinion is sought from the NHS Genomic Laboratory Hubs on whether the foveal hypoplasia phenotype fits within the scope of the retinal disorders panel.
Retinal disorders v8.59 PAX6 Achchuthan Shanmugasundram Gene: pax6 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.58 PAX6 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: PAX6.
Tag Q3_25_expert_review tag was added to gene: PAX6.
Retinal disorders v8.58 PAX6 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 04 November 2025.
Retinal disorders v8.58 PAX6 Achchuthan Shanmugasundram Phenotypes for gene: PAX6 were changed from Foveal hypoplasia 1, OMIM:136520; Microphthalmia/coloboma 12, OMIM:120200; ?Coloboma of optic nerve, OMIM:120430; Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229 to Foveal hypoplasia 1, OMIM:136520; Microphthalmia/coloboma 12, OMIM:120200; ?Coloboma of optic nerve, OMIM:120430; ?Morning glory disc anomaly, OMIM:120430; Aniridia, OMIM:106210; Cataract with late-onset corneal dystrophy, OMIM:106210; Keratitis, OMIM:148190; Optic nerve hypoplasia, OMIM:165550; Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229
Retinal disorders v8.57 PAX6 Achchuthan Shanmugasundram edited their review of gene: PAX6: Changed phenotypes to: Foveal hypoplasia 1, OMIM:136520, Microphthalmia/coloboma 12, OMIM:120200, ?Coloboma of optic nerve, OMIM:120430, ?Morning glory disc anomaly, OMIM:120430, Aniridia, OMIM:106210, Cataract with late-onset corneal dystrophy, OMIM:106210, Keratitis, OMIM:148190, Optic nerve hypoplasia, OMIM:165550, Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229
Retinal disorders v8.57 PAX6 Achchuthan Shanmugasundram Phenotypes for gene: PAX6 were changed from Foveal Hypoplasia and Presenile Cataract Syndrome; Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia) to Foveal hypoplasia 1, OMIM:136520; Microphthalmia/coloboma 12, OMIM:120200; ?Coloboma of optic nerve, OMIM:120430; Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229
Retinal disorders v7.1 PAX6 Achchuthan Shanmugasundram reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Foveal hypoplasia 1, OMIM:136520, Microphthalmia/coloboma 12, OMIM:120200, ?Coloboma of optic nerve, OMIM:120430, Anterior segment dysgenesis 5, multiple subtypes, OMIM:604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v5.15 PAX6 Mohammed Derar changed review comment from: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; to: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) having monoallelic variants in PAX6.
Retinal disorders v5.15 PAX6 Mohammed Derar edited their review of gene: PAX6: Added comment: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; Changed publications to: (Hingorani et al., 2009) (PMID: 19218613), (Thomas et al., 2014) (PMID: 23942204), (Cunha et al., 2021) (PMID: 33024313), (Jiang et al., 2021) (PMID:34415986), (Azuma et al., 1996) (https://doi.org/10.1086/302529)
Retinal disorders v2.271 PAX6 Catherine Snow reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v2.242 PAX6 Mohammed Derar reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: Hingorani et al. (2009) (PMID: 19218613), Thomas et al (2014) (PMID: 23942204); Phenotypes: foveal hypoplasia, optic nerve hypoplasia, anirdia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v1.159 PAX6 Ivone Leong reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.159 PAX6 Gavin Arno reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 PAX6 Ivone Leong Source NHS GMS was added to PAX6.