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  2. Intellectual_disability
  3. SRPX2
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Intellectual_disability

Gene: SRPX2

Red List (low evidence)
SRPX2 (sushi repeat containing protein, X-linked 2)
EnsemblGeneIds (GRCh38): ENSG00000102359
EnsemblGeneIds (GRCh37): ENSG00000102359
OMIM: 300642, Gene2Phenotype
SRPX2 is in 4 panels

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 -3
  • Intellectual disability
OMIM
300642
Clinvar variants
Variants in SRPX2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SRPX2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SRPX2 was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SRPX2 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen