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  1. Genes and Genomic Entities
  2. PAX6

PAX6

paired box 6
OMIM: 607108, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Amber PAX6 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.201

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • ?Coloboma of optic nerve MIM# 120430
    • ?Coloboma, ocular MIM# 120200
    • ?Morning glory disc anomaly MIM# 120430
    • Aniridia MIM# 106210
    • Anterior segment dysgenesis 5, multiple subtypes MIM# 604229
    • Cataract with late-onset corneal dystrophy MIM# 106210
    • Foveal hypoplasia 1 MIM# 136520
    • Keratitis MIM# 148190
    • Optic nerve hypoplasia MIM# 165550

    Green PAX6 in Anophthalmia_Microphthalmia_Coloboma


    Level 2: Ophthalmological disorders
    Version 1.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microphthalmia
    • Coloboma, ocular, MIM# 120200

    Green PAX6 in Eye Anterior Segment Abnormalities


    Level 2: Ophthalmological disorders
    Version 1.15

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aniridia MIM# 106210
    • Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293
    • Cataract with late-onset corneal dystrophy MIM# 106210
    • Foveal hypoplasia 1 MIM# 136520
    • Keratitis MIM# 148190
    • Optic nerve hypoplasia MIM# 165550

    Green PAX6 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.224

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PAX6 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.375

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PAX6 in Glaucoma congenital


    Level 2: Ophthalmological disorders
    Version 1.9

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229

    Green PAX6 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coloboma of optic nerve - MIM# 120430
    • Coloboma, ocular - MIM#120200
    • Morning glory disc anomaly - MIM#120430
    • Aniridia - MIM#106210
    • Anterior segment dysgenesis 5, multiple subtypes - MIM#604229
    • Cataract with late-onset corneal dystrophy - MIM#106210
    • Foveal hypoplasia 1- MIM#136520
    • Keratitis - MIM#148190
    • Optic nerve hypoplasia - MIM#165550

    Amber PAX6 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Aniridia (MIM#106210)

    Green PAX6 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red PAX6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green PAX6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microphthalmia/coloboma 12, OMIM #120200

    Red PAX6 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Aniridia, 106210
    • Aniridia, Cerebellar Ataxia, And Mental Retardation

    Red PAX6 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.152

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Monogenic diabetes, MONDO:0015967, PAX6-related

    Green PAX6 in Foveal Hypoplasia


    Level 2: Ophthalmological disorders
    Version 0.8

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Foveal hypoplasia 1 MIM#136520

    Red PAX6 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.58

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Aniridia (106210)

    Green PAX6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Aniridia

    Green PAX6 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews 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

    Green PAX6 in Fetal anomalies


    Version 1.465

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microphthalmia
    • Coloboma, ocular, MIM# 120200

    Red PAX6 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Aniridia, OMIM 106210

    Green PAX6 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • diabetes
    • Aniridia 106210