Ataxia and cerebellar anomalies - narrow panel
Gene: TDP2
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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
At least 6 individuals from 4 unrelated families reported.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: TDP2.
Source Expert Review Green was added to TDP2. Source NHS GMS was added to TDP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: TDP2.
Gene: tdp2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TDP2 were changed from Spinocerebellar ataxia, autosomal recessive 23, 616949 to Spinocerebellar ataxia, autosomal recessive 23, OMIM:616949
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