PITX1 upstream regulatory region

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PITX1 upstream regulatory region Region in Mendeliome


Version 2.50

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Liebenberg syndrome, MIM#186550
Tags
  • regulatory region

Green PITX1 upstream regulatory region Region in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Liebenberg syndrome, MIM#186550
Tags
  • regulatory region

Green PITX1 upstream regulatory region Region in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Liebenberg syndrome, MIM#186550
    Tags
    • regulatory region