PITX2

paired like homeodomain 2
OMIM: 601542, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PITX2 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.17

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 4, MIM# 137600
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500

Green PITX2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.510

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

Red PITX2 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.13

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 4, MIM# 137600

Green PITX2 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
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500

Green PITX2 in Mendeliome


Version 1.3795

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 4, MIM# 137600
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500

Green PITX2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.578

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

Green PITX2 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 4 (137600)
  • Axenfeld-Rieger syndrome, type 1 (180500)

Green PITX2 in Growth failure


Version 1.86

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500

Green PITX2 in Fetal anomalies


Version 1.481

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Anterior segment dysgenesis 4, OMIM #137600
  • Axenfeld-Rieger syndrome, type 1, OMIM #180500