Cerebral Palsy
Gene: SLITRK2EnsemblGeneIds (GRCh38): ENSG00000185985
EnsemblGeneIds (GRCh37): ENSG00000185985
OMIM: 300561, Gene2Phenotype
SLITRK2 is in 4 panels
1 review
Luisa Weiss (University of Adelaide)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slitrk2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slitrk2 has been classified as Green List (High Evidence).
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