1. Panels
  2. Chromosome Breakage Disorders
  3. TOP3A
STRs in panel
Prev Next
Regions in panel
Prev Next

Chromosome Breakage Disorders

Gene: TOP3A

Green List (high evidence)
TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. Eight unrelated families reported.
Created: 2 Apr 2021, 4:24 a.m. | Last Modified: 2 Apr 2021, 4:24 a.m.
Panel Version: 0.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097

Publications

Created: 2 Apr 2021, 4:24 a.m.
Last Modified: 2 Apr 2021, 4:24 a.m.
Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809
OMIM
601243
Clinvar variants
Variants in TOP3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: top3a has been classified as Green List (High Evidence).

2 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOP3A were changed from Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809 to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809

2 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809

2 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TOP3A were set to

2 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOP3A was added gene: TOP3A was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TOP3A was set to Unknown