SRY

sex determining region Y
OMIM: 480000, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SRY in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.66
Latest signed off version: v2.2 (3 Mar 2020)

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


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

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 2.76
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green SRY in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 46XX sex reversal 1, 400045
    • 46XY sex reversal 1, 400044