PAX6

paired box 6
OMIM: 607108, Gene2Phenotype

22 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 22 panels
Green PAX6 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Eligibility statement prior genetic testing Emory Genetics Laboratory Phenotypes Eye Disorders aniridia
Green PAX6 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation
Red PAX6 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes ?Morning glory disc anomaly, 120430 Aniridia, 106210 Cataract with late-onset corneal dystrohpy, 106210 Coloboma of optic nerve, 120430 Coloboma, ocular, 120200 Foveal hypoplasia 1, 136520 Gillespie syndrome, 206700 Keratitis, 148190 Optic nerve hypoplasia, 165550 Peters anomaly, 604229 Wagner Syndrome Aniridia PAX6-related Disorders Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Red PAX6 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Aniridia (106210)
Green PAX6 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes ?Morning glory disc anomaly, 120430 Aniridia, 106210 Cataract with late-onset corneal dystrohpy, 106210 Coloboma of optic nerve, 120430 Coloboma, ocular, 120200 Foveal hypoplasia 1, 136520 Gillespie syndrome, 206700 Keratitis, 148190 Optic nerve hypoplasia, 165550 Peters anomaly, 604229 Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization Optic Nerve Malformations Foveal Hypoplasia and Presenile Cataract Syndrome
Green PAX6 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert Review Green NHS GMS Phenotypes Aniridia, 106210 diabetes
Green PAX6 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation
Green PAX6 in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes ?Coloboma of optic nerve 120430 AD Optic nerve hypoplasia 165550 AD Aniridia 106210 AD Cataract with late-onset corneal dystrophy 106210 AD ?Morning glory disc anomaly 120430 AD Anterior segment dysgenesis 5, multiple subtypes 604229 Keratitis 148190 AD Foveal hypoplasia 1 136520 AD ?Coloboma, ocular 120200 AD
Green PAX6 in Sporadic aniridia Level 2: Ophthalmology Version 3.6 Latest signed off version: v3.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Aniridia, OMIM:106210
Red PAX6 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.14	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes ?Morning glory disc anomaly 120430 Aniridia 106210 Cataract with late-onset corneal dystrohpy 106210 Coloboma of optic nerve 120430 Coloboma ocular 120200 Foveal hypoplasia 1 136520 Gillespie syndrome 206700 Keratitis 148190 Optic nerve hypoplasia 165550 Peters anomaly 604229 Anterior segment dysgenesis 5, multiple subtypes 604229
Green PAX6 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes ?Morning glory disc anomaly, 120430Aniridia, 106210Cataract with late-onset corneal dystrohpy, 106210Coloboma of optic nerve, 120430Coloboma, ocular, 120200Foveal hypoplasia 1, 136520Gillespie syndrome, 206700Keratitis, 148190Optic nerve hypoplasia, 165550Peters anomaly, 604229
Green PAX6 in Monogenic diabetes Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes diabetes mellitus (disease), MONDO:0005015
Red PAX6 in Differences in sex development Level 2: Endocrinology Version 4.14 Latest signed off version: v4.5 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Not relevant to this panel
Red PAX6 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation
Green PAX6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes COLOBOMA OF OPTIC NERVE ANIRIDIA BILATERAL OPTIC NERVE HYPOPLASIA ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY KERATITIS HEREDITARY PETERS ANOMALY FOVEAL HYPOPLASIA
Green PAX6 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COLOBOMA OF OPTIC NERVE 120430 ANIRIDIA 106210 FOVEAL HYPOPLASIA 136520 BILATERAL OPTIC NERVE HYPOPLASIA 165550 KERATITIS HEREDITARY 148190 PETERS ANOMALY 604229 ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700
Green PAX6 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Anophthalmia
Red PAX6 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700 KERATITIS HEREDITARY (KERH)
Red PAX6 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation
Amber PAX6 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Eligibility statement prior genetic testing Phenotypes 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 Tags Q3_25_promote_green Q3_25_expert_review
Green PAX6 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Coloboma of optic nerve, 120430 Peters anomaly, 604229 Coloboma, ocular, 120200 Optic nerve hypoplasia, 165550 Aniridia 106210 Foveal hypoplasia 1, 136520 ?Morning glory disc anomaly, 120430 Keratitis, 148190 Anophthalmia Cataract with late-onset corneal dystrohpy, 106210 Gillespie syndrome, 206700
Red PAX6 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH

PAX6

22 panels

Green PAX6 in Glaucoma (developmental)

Sources

Phenotypes

Green PAX6 in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Red PAX6 in Childhood solid tumours

Sources

Phenotypes

Red PAX6 in Pituitary hormone deficiency

Sources

Phenotypes

Green PAX6 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green PAX6 in Familial diabetes

Sources

Phenotypes

Green PAX6 in Hereditary ataxia

Sources

Phenotypes

Green PAX6 in Albinism or congenital nystagmus

Sources

Phenotypes

Green PAX6 in Sporadic aniridia

Sources

Phenotypes

Red PAX6 in Corneal abnormalities

Sources

Phenotypes

Green PAX6 in Ocular coloboma

Sources

Phenotypes

Green PAX6 in Monogenic diabetes

Sources

Phenotypes

Red PAX6 in Differences in sex development

Sources

Phenotypes

Red PAX6 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green PAX6 in Fetal anomalies

Sources

Phenotypes

Green PAX6 in DDG2P

Sources

Phenotypes

Green PAX6 in Anophthalmia or microphthalmia

Sources

Phenotypes

Red PAX6 in Intellectual disability

Sources

Phenotypes

Red PAX6 in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Amber PAX6 in Retinal disorders

Sources

Phenotypes

Tags

Green PAX6 in Structural eye disease

Sources

Phenotypes

Red PAX6 in Childhood onset dystonia, chorea or related movement disorder

Sources