TOP3A

DNA topoisomerase III alpha
OMIM: 601243, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TOP3A in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809
Green TOP3A in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Green TOP3A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
Green TOP3A in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Green TOP3A in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
Green TOP3A in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097