TOP3A

DNA topoisomerase III alpha
OMIM: 601243
PanelMode of inheritanceDetails
9 panels
R-numbers: R229, R258
Signed-off version 1.7
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom Syndrome like Disorder
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom Syndrome like Disorder
R-numbers: R147
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MGRISCE2 (Bloom-like syndrome) 618097, Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 MGRISCE2 (Bloom-like syndrome)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
R-numbers: R352
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom Syndrome-like Disorder