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Microcephaly

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings
Created: 27 Feb 2022, 11:27 p.m. | Last Modified: 27 Feb 2022, 11:27 p.m.
Panel Version: 1.106

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2B (MIM#612389)
OMIM
608753
Clinvar variants
Variants in TSEN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tsen2 has been classified as Green List (High Evidence).

27 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tsen2 has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsen2 has been classified as Amber List (Moderate Evidence).

2 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSEN2 were set to

2 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsen2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSEN2 was added gene: TSEN2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSEN2 was set to Unknown