1. Genes and Genomic Entities
  2. SRY

SRY

sex determining region Y
OMIM: 480000, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SRY in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Testicular dysgenesis/Swyers syndrome
  • 46XX sex reversal 1 400045
  • 46XY sex reversal 1 400044
Tags
  • y-chromosome
Green SRY in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 46XY SEX REVERSAL 1
Tags
  • y-chromosome
Green SRY in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 46XY SEX REVERSAL 1 400044
    Tags
    • y-chromosome
    Red SRY in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • 46XY SEX REVERSAL 1
    Tags
    • y-chromosome