PITX3

paired like homeodomain 3
OMIM: 602669, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PITX3 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.57

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
  • Cataract 11, multiple types, MIM# 610623
  • Microphthalmia

Green PITX3 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.20

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250

Green PITX3 in Cataract


Level 2: Ophthalmological disorders
Version 0.631

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623

Green PITX3 in Mendeliome


Version 1.4541

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
  • Cataract 11, multiple types, MIM# 610623
  • Microphthalmia MONDO:0021129

Green PITX3 in Fetal anomalies


Version 1.542

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
  • Cataract 11, multiple types, MIM# 610623
  • Microphthalmia