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Mendeliome

Gene: TSPYL1

Green List (high evidence)

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

2 reviews

Eleanor Williams (Genomics England)

Green List (high evidence)

2 new cases of Sudden infant death with dysgenesis of the testes syndrome reported, both with the same frameshift variant:

PMID: 32885560 - Slater et al 2020 - report 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. Exome sequencing revealed homozygosity for a frameshift variant in TSPYL1 (c.725_726delTG, p.Val242GlufsTer52). The variant has a frequency of 0.002% in gnomAD but has not been reported in the homozygous state.

PMID: 33075815 - Buyse et al 2020 - report 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. WES analysis found a homozygous frameshift variant p.Val242GlufsTer52 in TSPYL1 in the affected siblings. The variant is found in gnomAD at a MAF of 0.0021%, but no homozygous individuals are reported. The parents and one unaffected sibling were heterozygous for the variant. The truncated protein was retained in the Golgi in patient fibroblasts whereas in control fibroblasts the full length protein was found in the nucleus. Patient cells also showed prolonged S and G2 phases with reduced cellular proliferation rates. Tspyl1 depleted zebrafish showed a similar phenotype with early lethality, defects in neurogenesis and cardiac dilation.
Created: 9 Jan 2021, 11 a.m. | Last Modified: 9 Jan 2021, 11 a.m.
Panel Version: 0.6026

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden infant death with dysgenesis of the testes syndrome OMIM:608800; sudden infant death-dysgenesis of the testes syndrome MONDO:0012124

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Limited evidence supporting gene disease association. Single homozygous variant reported in an Amish Community with sudden infant death with dysgenesis of the testes in males. Amber/Red. PMID: 15273283: Homozygous frameshift variant (not present in gnomad) 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: 19463995: 2 heterozygous variants reported in a 46,XY female with complete gonadal dysgenesis and a 46,XY male with idiopathic azoospermia. Both variants present in gnomad 5 hets each and no homozygotes. PMID: 22137496: 2 variants reported with male idiopathic infertility. S140C present in gnomad (8 hets, 0 hom), F366L present (957 hets, 3 homs). Authors concluded that TSPYL1 would not be recommended as part of routine diagnosis screenning. PMID: 25449952; 16418600: Concluded as not causative of the associated phenotype and has limited evidence for screening.
Created: 15 Jul 2020, 8:42 a.m. | Last Modified: 15 Jul 2020, 8:42 a.m.
Panel Version: 0.3359

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 Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome (MIM#608800)
  • sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
OMIM
604714
Clinvar variants
Variants in TSPYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSPYL1 were changed from Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); sudden infant death-dysgenesis of the testes syndrome MONDO:0012124

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSPYL1 were set to 15273283; 19463995; 22137496; 25449952; 16418600

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tspyl1 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tspyl1 has been classified as Amber List (Moderate Evidence).

15 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSPYL1 were changed from to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800)

15 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSPYL1 were set to

15 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSPYL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tspyl1 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: TSPYL1 was added gene: TSPYL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSPYL1 was set to Unknown