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Prepair 1000+

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by an abnormally small cerebellum and brainstem, progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings, delayed development, problems with movement, and intellectual disability.
Reported in at least 3 unrelated families.
Created: 21 Jan 2025, 11:44 p.m. | Last Modified: 21 Jan 2025, 11:44 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2B, MIM #612389

Publications

Created: 21 Jan 2025, 11:44 p.m.
Last Modified: 21 Jan 2025, 11:44 p.m.
Panel version: 1.1257

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia type 2B, 612389 (3) to Pontocerebellar hypoplasia type 2B, MIM #612389

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSEN2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 (3) for gene: TSEN2

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)