1. Genes and Genomic Entities
  2. PITX2

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 1.47

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • 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 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • AXENFELD-RIEGER SYNDROME
Green PITX2 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 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 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 Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataracts
Amber PITX2 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
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Aniridia, MONDO:0019172
Green PITX2 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

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


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
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RING DERMOID OF CORNEA
  • IRIDOGONIODYSGENESIS TYPE 2
  • AXENFELD-RIEGER SYNDROME TYPE 1
  • PETERS ANOMALY
Red PITX2 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
No list PITX2 in Osteogenesis imperfecta


Level 2: Musculoskeletal
Version 5.4
Latest signed off version: v5.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
  • curated_removed
Green PITX2 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
    • AXENFELD-RIEGER SYNDROME TYPE 1 180500
    • PETERS ANOMALY 604229
    • RING DERMOID OF CORNEA 180550
    • IRIDOGONIODYSGENESIS TYPE 2 137600
    Red PITX2 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  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 1.56

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Red PITX2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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, imprinted status unknown
    Sources
    • Expert Review Red
    • 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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Green PITX2 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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
    Red PITX2 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

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