Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TDP2

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 4 May 2021, 1:49 p.m. | Last Modified: 4 May 2021, 1:49 p.m.
Panel Version: 2.150

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 6 individuals from 4 unrelated families reported.
Sources: Expert list
Created: 13 Sep 2020, 7:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 23, 616949

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23, OMIM:616949
Tags
Q2_21_rating
OMIM
605764
Clinvar variants
Variants in TDP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TDP2.

4 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tdp2 has been classified as Amber List (Moderate Evidence).

19 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TDP2 were changed from Spinocerebellar ataxia, autosomal recessive 23, 616949 to Spinocerebellar ataxia, autosomal recessive 23, OMIM:616949

13 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TDP2 was added gene: TDP2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP2 were set to 24658003; 30109272; 31410782 Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949 Review for gene: TDP2 was set to GREEN gene: TDP2 was marked as current diagnostic