PanelApp (staging)
  1. Genes and Genomic Entities
  2. TSPYL1

TSPYL1

TSPY like 1
OMIM: 604714, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TSPYL1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome (MIM#608800)
Tags
  • disputed

Green TSPYL1 in Mendeliome


Version 1.2302

2 reviews 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

Green TSPYL1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Sudden infant death with dysgenesis of the testes syndrome - 608800
    • sudden infant death-dysgenesis of the testes syndrome MONDO:0012124

    Red TSPYL1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)

    Red TSPYL1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Sudden infant death with dysgenesis of the testes syndrome

    Red TSPYL1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		2 reviews 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

    Red TSPYL1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Sudden infant death with dysgenesis of the testes syndrome