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 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red SRPX2 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 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 8.123
    Latest signed off version: v8.0 (30 Apr 2025)

    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 9.280
    Latest signed off version: v9.0 (30 Apr 2025)

    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