PAX6

paired box 6
OMIM: 607108, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green PAX6 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

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


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

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 Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.33
    Latest signed off version: v2.5 (4 Mar 2020)

    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


    Version 2.13
    Latest signed off version: v2.2 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center
    Phenotypes
    • Aniridia (106210)

    Green PAX6 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.110
    Latest signed off version: v2.76 (5 Aug 2021)

    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 1.66

    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 1.303

    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


    Version 1.23
    Latest signed off version: v1.2 (3 Mar 2020)

    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 Aniridia


    Version 2.15
    Latest signed off version: v2.5 (15 Oct 2020)

    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 1.12

    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 1.46

    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


    Version 2.50
    Latest signed off version: v2.2 (25 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • diabetes mellitus (disease), MONDO:0005015

    Red PAX6 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.66
    Latest signed off version: v2.2 (3 Mar 2020)

    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 Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    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


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.45

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Anophthalmia

    Green PAX6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • 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 - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    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

    Red PAX6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Eligibility statement prior genetic testing
    • Expert Review Red
    Phenotypes
    • Foveal Hypoplasia and Presenile Cataract Syndrome
    • Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia)

    Green PAX6 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    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 or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PAX6 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Anterior segment dysgenesis 5, multiple subtypes, 604229
    • Keratitis, 148190
    • Cataract with late-onset corneal dystrophy, 106210
    • ?Coloboma, ocular, 120200
    • Optic nerve hypoplasia, 165550
    • ?Coloboma of optic nerve, 120430
    • Foveal hypoplasia 1, 136520
    • Aniridia, 106210
    • ?Morning glory disc anomaly, 120430