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Severe microcephaly

Gene: TSEN15

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: TSEN15 was added and rated Green by Zornitza Stark based on PMID:27392077 (Breuss et al, 2016) who report three homozygous TSEN15 variants in four individuals from three families. All affected individuals developed progressive microcephaly of relevant severity, which represented an early and main feature of the disease presentation.

There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 18 May 2021, 12:54 p.m. | Last Modified: 18 May 2021, 12:54 p.m.
Panel Version: 2.160

Zornitza Stark (Australian Genomics)

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: Expert list
Created: 4 Sep 2020, 10:33 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 2F, OMIM:617026
Tags
Q2_21_rating
OMIM
608756
Clinvar variants
Variants in TSEN15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TSEN15.

18 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tsen15 has been classified as Amber List (Moderate Evidence).

18 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F MIM#617026 to Pontocerebellar hypoplasia, type 2F, OMIM:617026

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TSEN15 was added gene: TSEN15 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F MIM#617026 Review for gene: TSEN15 was set to GREEN gene: TSEN15 was marked as current diagnostic