Ataxia - paediatric
Gene: TSEN34
TSEN34 (tRNA splicing endonuclease subunit 34)
EnsemblGeneIds (GRCh38): ENSG00000170892
EnsemblGeneIds (GRCh37): ENSG00000170892
OMIM: 608754, Gene2Phenotype
TSEN34 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000170892
EnsemblGeneIds (GRCh37): ENSG00000170892
OMIM: 608754, Gene2Phenotype
TSEN34 is in 9 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
No publications associated with ataxia, and ataxia is not a prominent feature of the condition.
Sources: Expert listCreated: 17 Jan 2020, 12:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Pontocerebellar hypoplasia type 2C, 612390
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not convinced ataxia is a prominent feature; if one gene is included then all PCH genes potentially should be.
Sources: Expert listCreated: 27 Dec 2019, 3:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2C, MIM#612390
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- ?Pontocerebellar hypoplasia type 2C, 612390
- OMIM
- 608754
- Clinvar variants
- Variants in TSEN34
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tsen34 has been classified as Red List (Low Evidence).
17 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TSEN34 was added gene: TSEN34 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to ?Pontocerebellar hypoplasia type 2C, 612390 Review for gene: TSEN34 was set to RED