PHOX2A

paired like homeobox 2a
OMIM: 602753, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PHOX2A in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2 602078

Red PHOX2A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Fibrosis of extraocular muscles, congenital

Green PHOX2A in Congenital ophthalmoplegia


Level 2: Ophthalmological disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2, MIM# 602078

Red PHOX2A in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fibrosis of extraocular muscles, congenital