PanelApp (test)
  1. Genes and Genomic Entities
  2. TOP3A:Ensemblv115

TOP3A:Ensemblv115

DNA topoisomerase III alpha
OMIM: 601243, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TOP3A in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809

Green TOP3A in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097