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Fetal anomalies

Gene: TSPYL1

Amber List (moderate evidence)
TSPYL1 (TSPY like 1)
EnsemblGeneIds (GRCh38): ENSG00000189241
EnsemblGeneIds (GRCh37): ENSG00000189241
OMIM: 604714, Gene2Phenotype
TSPYL1 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Biallelic loss of function variants associated with sudden infant death with dysgenesis of the testes syndrome. Lethal phenotype. Gonadal dysgenesis was detectable on prenatal ultrasound in at least one published case. PMID 15273283: Homozygous frameshift 457_458insG in 21 patients from 9 Amish families with sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males. Is already Green for sudden death.PMID 32885560: Non-Amish patient with homozygous frameshift c.725_726del, p.(Val242Glufs*52). 46,XY phenotypic female, poor feeding and abnormal motor movements at birth, developed intractable epilepsy after hospital discharge.PMID 33075815: Three siblings with homozygous c.725_726del, p.(Val242Glufs*52), neonatal bradycardia/apnea, feeding problems, hyperactive startle reflex, severe postnatal progressive neurological abnormalities, visual impairment, testicular dysgenesis in males and sudden death in infancy.PMID 36082874: Compound heterozygous c.725_726del; p.(Val242Glufs*52) and c.236del; p.(Gly79Valfs*36) in a patient with gonadal dysgenesis (small genital bud noted on ultrasound at 22 weeks), craniofacial dysmorphism, cardio-respiratory dysfunction, and repeated seizures, death at 10 months.Additionally, heterozygous missense variants reported in 2 cases in association with gonadal dysgenesis or azoospermia, but not associated with infant death (PMID: 19463995).
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden infant death with dysgenesis of the testes syndrome, OMIM:608800

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome, OMIM:608800
OMIM
604714
Clinvar variants
Variants in TSPYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: TSPYL1 was added gene: TSPYL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815; 36082874 Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, OMIM:608800