Hereditary ataxia with onset in adulthood
Gene: TSEN2EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Sufficient families reported in the literature. p.Tyr309Cys variant shared by a number of affected individuals (either homozygous or compound het), of slight concern is that this variant is also in the homozygous state in a single gnomAD donor. Cautiously GreenCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 2B, 612389
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Pontocerebellar hypoplasia 2B, 612389
- OMIM
- 608753
- Clinvar variants
- Variants in TSEN2
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Arthrogryposis
- Fetal anomalies
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia 2B, 612389 for gene: TSEN2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TSEN2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to TSEN2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TSEN2 was added gene: TSEN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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)