PITX2 upstream regulatory region

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PITX2 upstream regulatory region Region in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Literature
Phenotypes
  • Axenfeld-Rieger syndrome, MONDO:0019187
Tags
  • SV/CNV

Red PITX2 upstream regulatory region Region in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Literature
Phenotypes
  • Axenfeld-Rieger syndrome, MONDO:0019187
Tags
  • SV/CNV

Red PITX2 upstream regulatory region Region in Mendeliome


Version 1.4601

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Axenfeld-Rieger syndrome, MONDO:0019187
Tags
  • SV/CNV