Cerebellar hypoplasia

Gene: TSEN15

Red List (low evidence)

TSEN15 (tRNA splicing endonuclease subunit 15)
EnsemblGeneIds (GRCh38): ENSG00000198860
EnsemblGeneIds (GRCh37): ENSG00000198860
OMIM: 608756, Gene2Phenotype
TSEN15 is in 8 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Disease confidence rating in DDG2P at time of re-review is still 'probable' for Pontocerebellar Hypoplasia and Progressive Microcephaly. PMID:27392077 (Breuss et al., 2016) report three homozygous TSEN15 variants in four individuals from three families, however for family III, the authors were unable to access the patients to perform an MRI and therefore they could not confirm a PCH phenotype by medical imaging. Note that one of the individuals in family II reported by Breuss et al. (PMID:27392077) was previously included in a study by Alazami et al (PMID:25558065).
Created: 16 May 2019, 9:21 a.m.

Alice Gardham (Genomics England)

Only reported in three families. Probable DD gene on G2P
Created: 3 Nov 2016, 11:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F 617026

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 2F 617026
OMIM
608756
Clinvar variants
Variants in TSEN15
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TSEN15 were set to 27392077

22 Feb 2017, Gel status: 0

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: 0

Added New Source

Alice Gardham (Genomics England)

TSEN15 was added to Cerebellar hypoplasiapanel. Sources: Literature

3 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TSEN15 was created by agardham