TOP3A

DNA topoisomerase III alpha
OMIM: 601243, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TOP3A in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.2	1 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 2.336	1 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 2.8	1 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 2.1 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 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
Red TOP3A in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MONDO:0020845
Green TOP3A in Growth failure Version 2.10	1 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 2.19	1 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