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Fetal anomalies

Gene: TSEN15

Green List (high evidence)

TSEN15 (tRNA splicing endonuclease subunit 15)
EnsemblGeneIds (GRCh38): ENSG00000198860
EnsemblGeneIds (GRCh37): ENSG00000198860
OMIM: 608756, Gene2Phenotype
TSEN15 is in 6 panels

2 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 27392077 Reports four individuals from three families with PCH type 2 and different homozygous missense variants, all had progressive microcephaly (between -3SD and -9.7SD). Functional studies indicated that all variants resulted in almost complete lack of in vitro tRNA cleavage activity.
Sources: Literature
Created: 2 Sep 2020, 9:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F MIM#617026

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Expert list
Created: 2 Mar 2020, 2:58 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
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 2F MIM#617026
OMIM
608756
Clinvar variants
Variants in TSEN15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsen15 has been classified as Green List (High Evidence).

18 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSEN15 were changed from Pontocerebellar Hypoplasia and Progressive Microcephaly to Pontocerebellar hypoplasia, type 2F MIM#617026

18 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSEN15 were set to

18 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsen15 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSEN15 was added gene: TSEN15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly