Differences of Sex Development

Gene: TSPYL1

Green List (high evidence)

Bi-allelic variants: three families reported with LOF variants and sudden infant death with DSD.

Mono-allelic variants: limited/disputed evidence for association with DSD.

Created: 16 Jan 2021, 12:48 a.m. | Last Modified: 16 Jan 2021, 12:48 a.m.

Panel Version: 0.185

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); sudden infant death-dysgenesis of the testes syndrome MONDO:0012124

Publications

• 15273283
• 19463995
• 22137496
• 25449952
• 16418600
• 32885560
• 33075815

I don't know

Limited evidence supporting gene disease association. Single homozygous variant reported in an Armish 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: 12 Jul 2020, 10:51 p.m. | Last Modified: 12 Jul 2020, 10:51 p.m.

Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 15273283
• 19463995
• 22137496
• 25449952
• 16418600