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Fetal anomalies

Gene: TSEN2

Green List (high evidence)

TSEN2 (tRNA splicing endonuclease subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000154743
EnsemblGeneIds (GRCh37): ENSG00000154743
OMIM: 608753, Gene2Phenotype
TSEN2 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pontocerebellar, cortical and corpus callosum abnormalities.
Created: 18 Jan 2022, 8:11 a.m. | Last Modified: 18 Jan 2022, 8:11 a.m.
Panel Version: 0.2414

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2B (MIM#612389)

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Total 4 individuals from 3 families with microcephaly but only one has an actual head circumference measurement/value.

PMID 23562994: 1 boy with progressive microcephaly (-11.4 SD by age 3) reported with chet variants.
PMID 20952379: 3 affected individuals from 2 families were microcephalic but no measurements were provided (microcephaly is defined in another section of the paper as < -2SD).
Created: 2 Sep 2020, 9:47 a.m. | Last Modified: 2 Sep 2020, 9:47 a.m.
Panel Version: 0.335

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2B (MIM#612389)

Publications

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

History Filter Activity

18 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsen2 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: TSEN2 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 to Pontocerebellar hypoplasia type 2B (MIM#612389)

18 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSEN2 were set to

18 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsen2 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: TSEN2 was added gene: TSEN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4