Ataxia and cerebellar anomalies - narrow panel
Gene: TSEN2
TSEN2 (tRNA splicing endonuclease subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pontocerebellar Hypoplasia
- Pontocerebellar hypoplasia type 2B,612389
- Pontocerebellar Hypoplasia type 2B
- Pontocerebellar hypoplasia 2B (612389)
- OMIM
- 608753
- Clinvar variants
- Variants in TSEN2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Arthrogryposis
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Adult onset neurodegenerative disorder
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 2B; Pontocerebellar hypoplasia type 2B,612389 for gene: TSEN2 Publications for gene TSEN2 were changed from to PMID: 18711368; PMID: 23562994; PMID: 20952379
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TSEN2 was added gene: TSEN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389)