Arthrogryposis
Gene: TSEN34
TSEN34 (tRNA splicing endonuclease subunit 34)
EnsemblGeneIds (GRCh38): ENSG00000170892
EnsemblGeneIds (GRCh37): ENSG00000170892
OMIM: 608754, Gene2Phenotype
TSEN34 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000170892
EnsemblGeneIds (GRCh37): ENSG00000170892
OMIM: 608754, Gene2Phenotype
TSEN34 is in 11 panels
1 review
Alice Gardham (Genomics England)
No evidence of arthrogryposis associated with TSEN34 mutationsCreated: 22 Dec 2016, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2C 612390
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Pontocerebellar hypoplasia type 2C 612390
- OMIM
- 608754
- Clinvar variants
- Variants in TSEN34
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Arthrogryposis
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Adult onset neurodegenerative disorder
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
22 Dec 2016, Gel status: 0
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for TSEN34 were set to Pontocerebellar hypoplasia type 2C 612390
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSEN34 was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TSEN34 was added to Arthrogryposispanel. Sources: Expert list