TOP3A

DNA topoisomerase III alpha
OMIM: 601243, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TOP3A in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green TOP3A in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.88 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Bloom Syndrome-like Disorder
Green TOP3A in Confirmed Fanconi anaemia or Bloom syndrome Version 2.4 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2 618097 MGRISCE2 (Bloom-like syndrome) MGRISCE2 (Bloom-like syndrome) 618097
Green TOP3A in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Expert list Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green TOP3A in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green TOP3A in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Bloom Syndrome like Disorder
Green TOP3A in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Bloom Syndrome like Disorder
Green TOP3A in Growth failure in early childhood Version 3.95 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097
Green TOP3A in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green TOP3A in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098