PITX2

paired like homeodomain 2
OMIM: 601542, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green PITX2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.5

Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Anterior segment dysgenesis 4 137600
    • Axenfeld-Rieger syndrome, type 1 180500

    Green PITX2 in IUGR and IGF abnormalities

    Level 3: Growth hormone disorders
    Level 2: Endocrine disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • AXENFELD-RIEGER SYNDROME

    Green PITX2 in Pituitary hormone deficiency


    Version 2.0

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Axenfeld-Rieger syndrome, type 1 (180500)
    • Anterior segment dysgenesis 4 (137600)

    Red PITX2 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cataracts

    Amber PITX2 in Aniridia


    Version 2.0

    Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH

    Green PITX2 in Corneal abnormalities

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.7

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Anterior segment dysgenesis 4 137600 AD
    • Axenfeld-Rieger syndrome, type 1 180500 AD
    • Ring dermoid of cornea 180550

    Green PITX2 in Fetal anomalies


    Version 0.346

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RING DERMOID OF CORNEA
    • IRIDOGONIODYSGENESIS TYPE 2
    • AXENFELD-RIEGER SYNDROME TYPE 1
    • PETERS ANOMALY

    No list PITX2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.0

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age

    Green PITX2 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AXENFELD-RIEGER SYNDROME TYPE 1 180500
    • PETERS ANOMALY 604229
    • RING DERMOID OF CORNEA 180550
    • IRIDOGONIODYSGENESIS TYPE 2 137600

    Red PITX2 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.4

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss

    Green PITX2 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.21

    Component of the following Super Panels:

  • Merge for Structural eye disease v2.0
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory

    Red PITX2 in Growth failure in early childhood


    Version 1.3

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • AXENFELD-RIEGER SYNDROME

    Amber PITX2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Axenfeld-Rieger syndrome, type 1, 180500
    • Iridogoniodysgenesis, type 2, 137600
    • Ring dermoid of cornea, 180550
    • Peters anomaly, 604229

    Red PITX2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.222

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Green PITX2 in Structural eye disease


    Version 0.95

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Axenfeld-Rieger syndrome, type 1 180500
    • Anterior segment dysgenesis 4 137600