Genomics England

TOP3A

DNA topoisomerase III alpha

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 MGRISCE2 (Bloom-like syndrome), MGRISCE2 (Bloom-like syndrome) 618097
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom Syndrome like Disorder
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom Syndrome like Disorder
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom Syndrome-like Disorder