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Mackenzie's Mission_Reproductive Carrier Screening

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

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Agreed amber in diagnostic, but for screening test would need a fair bit of extra evidence.
Created: 29 Oct 2020, 3:12 a.m. | Last Modified: 29 Oct 2020, 3:12 a.m.
Panel Version: 0.35

Sarah Righetti (University of New South Wales)

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 screening.

PMID: 25449952; 16418600: Concluded as not causative of the associated phenotype and has limited evidence for screening.
Created: 23 Oct 2020, 4:10 a.m. | Last Modified: 23 Oct 2020, 4:10 a.m.
Panel Version: 0.32

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)
OMIM
604714
Clinvar variants
Variants in TSPYL1
Penetrance
None
Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

29 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

19 Apr 2020, Gel status: 3

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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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)