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  3. TSEN2
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Cerebellar hypoplasia

Gene: TSEN2

Green List (high evidence)
TSEN2 (tRNA splicing endonuclease subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 11 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Listed on G2P. Reasonable amount of literature. Offered as diagnostic test on UKGTN
Created: 3 Nov 2016, 9:36 a.m.
Created: 3 Nov 2016, 9:36 a.m.

Panel version: 0.44

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by a reviewer, and found in 3/4 sources.
Created: 19 May 2016, 8:52 a.m.
Created: 19 May 2016, 8:52 a.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pontocerebellar Hypoplasia type 2B
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2B,612389
OMIM
608753
Clinvar variants
Variants in TSEN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSEN2 was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSEN2 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSEN2 was added to Cerebellar hypoplasiapanel. Source: UKGTN

20 Jan 2016, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

TSEN2 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other

20 Jan 2016, Gel status: 0

Created

Helen Savage (Congenica Ltd)

TSEN2 was created by helen.savage