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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. TSEN15
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Cerebellar and Pontocerebellar Hypoplasia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3 unrelated families reported.
Created: 15 Feb 2021, 7:13 a.m. | Last Modified: 15 Feb 2021, 7:13 a.m.
Panel Version: 0.221

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F, MIM# 617026

Publications

Created: 15 Feb 2021, 7:13 a.m.
Last Modified: 15 Feb 2021, 7:13 a.m.
Panel version: 0.221

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 2F, MIM# 617026
OMIM
608756
Clinvar variants
Variants in TSEN15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2021, 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).

15 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSEN15 were set to

15 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSEN15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSEN15 was added gene: TSEN15 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSEN15 was set to Unknown