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Intellectual disability syndromic and non-syndromic

Gene: TDP2

Green List (high evidence)

TDP2 (tyrosyl-DNA phosphodiesterase 2)
EnsemblGeneIds (GRCh38): ENSG00000111802
EnsemblGeneIds (GRCh37): ENSG00000111802
OMIM: 605764, Gene2Phenotype
TDP2 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID is part of the phenotype: 4 families with 6 affected patients, with functional evidence.

1 family with 3 affected sibs with homozygous splice site mutation in the TDP2 gene. Patient cell extracts showed absence of the full-length TDP2 protein and absence of 5-prime TDP activity, consistent with a loss of function, although 3-prime TDP activity, conferred by TDP1, was normal. In addition, patient lymphoblastoid cells were hypersensitive to the TOP2 poison etoposide. The findings indicated impaired capacity for double-strand break repair.

1 unrelated Egyptian patient with a similar disorder was homozygous for a truncating mutation in the TDP2 gene

1 unrelated Caucasian patient with same homozygous splice site mutation in the TDP2 gene. Western blot analysis did not detect TDP2 protein in patient primary skin fibroblasts. Patient fibroblasts showed an inability to rapidly repair topoisomerase-induced DNA double-strand breaks in the nucleus and also showed a profound hypersensitivity to this type of DNA damage. Complementation of patient cells with recombinant human TDP2 restored normal rates of nuclear DSB repair.

1 unrelated patient with same homozygous splice site mutation in the TDP2 gene
Created: 10 Dec 2019, 5:43 a.m. | Last Modified: 10 Dec 2019, 5:43 a.m.
Panel Version: 0.1144

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23
  • OMIM #616949
OMIM
605764
Clinvar variants
Variants in TDP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tdp2 has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TDP2. Source Expert list was added to TDP2. Mode of inheritance for gene TDP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDP2 were changed from to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949 Publications for gene TDP2 were changed from PMID: 31410782; 30109272; 24658003 to PMID: 31410782; 30109272; 24658003

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TDP2 was added gene: TDP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TDP2 was set to Unknown