PITX2

paired like homeodomain 2
OMIM: 601542, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green PITX2 in Glaucoma (developmental)

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

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 1.30

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 2.4
Signed off v.2.2 on 3 Mar 2020

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 2.3
Signed off v.2.2 on 19 Feb 2020

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 2.4
Signed off v.2.2 on 3 Mar 2020

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 1.73
Signed off v.1.2 on 17 Feb 2020

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 2.6
Signed off v.2.2 on 13 Feb 2020

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

Green PITX2 in DDG2P


Version 2.8
Signed off v.2.2 on 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
    • 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 2.18
    Signed off v.2.5 on 13 Feb 2020

    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 1.23

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory

    Red PITX2 in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    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 3.82
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.13
    Signed off v.2.7 on 25 Feb 2020

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

    Green PITX2 in Structural eye disease


    Version 1.5
    Signed off v.1.3 on 4 Mar 2020

    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

    Green PITX2 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Axenfeld-Rieger syndrome, type 1, 180500
    • Anterior segment dysgenesis 4, 137600
    • Ring dermoid of cornea, 180550