Cerebral Palsy
Gene: SIK1EnsemblGeneIds (GRCh38): ENSG00000142178
EnsemblGeneIds (GRCh37): ENSG00000142178
OMIM: 605705, Gene2Phenotype
SIK1 is in 5 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: LiteratureCreated: 27 May 2024, 1:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 30, MIM#616341
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Developmental and epileptic encephalopathy 30, MIM#616341
- OMIM
- 605705
- Clinvar variants
- Variants in SIK1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sik1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sik1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: SIK1 was added gene: SIK1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIK1 were set to PMID: 38693247 Phenotypes for gene: SIK1 were set to Developmental and epileptic encephalopathy 30, MIM#616341 Review for gene: SIK1 was set to RED