Cerebral Palsy
Gene: CDKL5EnsemblGeneIds (GRCh38): ENSG00000008086
EnsemblGeneIds (GRCh37): ENSG00000008086
OMIM: 300203, Gene2Phenotype
CDKL5 is in 10 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals reported (1 female with heterozygous frameshift deletion, 1 male with hemizygous frameshift deletion) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 24 Jun 2024, 5:54 a.m. | Last Modified: 24 Jun 2024, 5:54 a.m.
Panel Version: 1.294
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Developmental and epileptic encephalopathy 2, MIM#300672
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
2 individual cases in two independent large cohort studies. One mutation reported as a mosaic nonsense mutation, the other one reported as a de novo hemizygous frameshift mutation. No phenotype information given.
Sources: LiteratureCreated: 23 May 2023, 12:53 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
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
-
- Expert Review Amber
- Phenotypes
-
- Developmental and epileptic encephalopathy 2, MIM# 300672
- OMIM
- 300203
- Clinvar variants
- Variants in CDKL5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CDKL5 were set to 33528536; 34788679
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdkl5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CDKL5 were changed from to Developmental and epileptic encephalopathy 2, MIM# 300672
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdkl5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Luisa Weiss (University of Adelaide)gene: CDKL5 was added gene: CDKL5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CDKL5 were set to 33528536; 34788679 Review for gene: CDKL5 was set to AMBER