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Cerebral Palsy

Gene: SLITRK2

Green List (high evidence)

SLITRK2 (SLIT and NTRK like family member 2)
EnsemblGeneIds (GRCh38): ENSG00000185985
EnsemblGeneIds (GRCh37): ENSG00000185985
OMIM: 300561, Gene2Phenotype
SLITRK2 is in 4 panels

1 review

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Case study of several patients harboring SLITRK2 variants and neurodevelopmental delay. Three patients reported with spasticity, diplegic cerebral palsy and dystonic diplegia, respectively. Functional tests show impaired neuronal function and knock-out mice showed abnormal gait.
Sources: Literature
Created: 31 Jul 2023, 5:24 a.m.

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

Phenotypes
Intellectual developmental disorder, X-linked MIM#301107

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked MIM#301107
OMIM
300561
Clinvar variants
Variants in SLITRK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slitrk2 has been classified as Green List (High Evidence).

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slitrk2 has been classified as Green List (High Evidence).

31 Jul 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Luisa Weiss (University of Adelaide)

gene: SLITRK2 was added gene: SLITRK2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLITRK2 were set to 35840571 Phenotypes for gene: SLITRK2 were set to Intellectual developmental disorder, X-linked MIM#301107 Review for gene: SLITRK2 was set to GREEN