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  2. Growth failure in early childhood
  3. TOP3A
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Growth failure in early childhood

Gene: TOP3A

Green List (high evidence)
TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore added to panel as a Green gene.
Created: 30 May 2019, 9:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, growth restriction, and increased sister chromatid exchange 2; 618097 MGRISCE2 (Bloom-like syndrome); MGRISCE2 (Bloom-like syndrome) 618097

Created: 30 May 2019, 9:51 a.m.

Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097
OMIM
601243
Clinvar variants
Variants in TOP3A
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TOP3A were changed from MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2; 618097 MGRISCE2 (Bloom-like syndrome) to Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097

30 May 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TOP3A was added gene: TOP3A was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOP3A were set to MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2; 618097 MGRISCE2 (Bloom-like syndrome)