Ataxia - paediatric
Gene: TSEN2
TSEN2 (tRNA splicing endonuclease subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 13 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is not a prominent feature of this phenotype.
Sources: Expert listCreated: 17 Jan 2020, 12:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2B, 612389
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, 3:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2B, MIM#612389
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pontocerebellar hypoplasia type 2B, 612389
- OMIM
- 608753
- Clinvar variants
- Variants in TSEN2
- Penetrance
- None
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Microcephaly
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
- Atypical Haemolytic Uraemic Syndrome_MPGN
History Filter Activity
17 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tsen2 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: TSEN2 was added gene: TSEN2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 Review for gene: TSEN2 was set to RED