1. Genes and Genomic Entities
  2. SRPX2

SRPX2

sushi repeat containing protein, X-linked 2
OMIM: 300642, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SRPX2 in Cerebral vascular malformations


Level 2: Neurology
Version 5.1
Latest signed off version: v5.0 (6 May 2026)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red SRPX2 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • BILATERAL PERISYLVIAN POLYMICROGYRIA 300388
    • ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643
    Red SRPX2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert
    Phenotypes
    • ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643
    Red SRPX2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643