Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: TSPYL1

Red List (low evidence)

TSPYL1 (TSPY like 1)
EnsemblGeneIds (GRCh38): ENSG00000189241
EnsemblGeneIds (GRCh37): ENSG00000189241
OMIM: 604714, Gene2Phenotype
TSPYL1 is in 7 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Originally reported only in Amish community, founder variant
subsequently reported in 3 unrelated families, non amish - GREEN AT UPGRADE
2 cohort studies looking for variants in this gene in SIDS cohorts but it's very rare and presents with more of a progressive neurological phenotype in the non Amish families
Created: 5 Oct 2024, 1:46 a.m. | Last Modified: 5 Oct 2024, 1:46 a.m.
Panel Version: 1.384

Lauren Rogers (Victorian Clinical Genetics Services)

I don't know

Limited evidence supporting gene disease association.

PMID: 15273283 - Puffenberger 2004 - Homozygous frameshift variant (p.Glu153Glyfs*16) identified in a large Old Order Amish community with sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males.

PMID: 32885560 - Slater et al 2020 - homozygous frameshift variant (p.Val242GlufsTer52) identified in a Hispanic, phenotypically female infant with poor feeding and abnormal motor movements noted at birth. Mild T-cell lymphopenia, absent uterus and adnexal structures, with no gonads visible and intractable epilepsy are also reported. The patient died of respiratory failure at 8 months of age.

PMID: 33075815 - Buyse et al 2020 - homozygous frameshift variant (p.Val242GlufsTer52) identified in 3 affected siblings from a consanguineous Turkish family. The phenotype was characterized by visceroautonomic dysfunction, severe postnatal progressive neurological abnormalities, visual impairment, testicular dysgenesis in males and sudden death at infant age.

PMID: 36082874 - Mazel 2022 - compound heterozygous variants identified in a Romanian male infant with gonadal dysgenesis, cardio-respiratory dysfunction, and repeated seizures. He died at age 10 months of cardiorespiratory arrest.
Created: 3 Oct 2024, 5 a.m. | Last Modified: 3 Oct 2024, 5 a.m.
Panel Version: 1.359

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden infant death with dysgenesis of the testes syndrome (MIM#608800)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Tags
review
OMIM
604714
Clinvar variants
Variants in TSPYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag review tag was added to gene: TSPYL1.

5 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: tspyl1 has been classified as Red List (Low Evidence).

5 Oct 2024, Gel status: 1

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: TSPYL1 were set to

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSPYL1 was added gene: TSPYL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)