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Intellectual disability syndromic and non-syndromic

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variant in this gene originally identified in a 3-generation family. However, GRIN2A variant subsequently reported in same family plus original SRPX2 variant found to be at high pop frequency, now reclassified as benign; therefore no evidence currently for gene-disease association.
Created: 29 Feb 2020, 12:23 a.m. | Last Modified: 29 Feb 2020, 12:23 a.m.
Panel Version: 0.2256

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
OMIM
300642
Clinvar variants
Variants in SRPX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srpx2 has been classified as Red List (Low Evidence).

29 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643

29 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRPX2 were set to

29 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

29 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srpx2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRPX2 was added gene: SRPX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SRPX2 was set to Unknown