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  3. CDKL5
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Clefting

Gene: CDKL5

Red List (low evidence)
CDKL5 (cyclin dependent kinase like 5)
EnsemblGeneIds (GRCh38): ENSG00000008086
EnsemblGeneIds (GRCh37): ENSG00000008086
OMIM: 300203, Gene2Phenotype
CDKL5 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Of 16 patients with sequence variants in CDKL5 in the DECIPHER database (https://www.deciphergenomics.org/) one of them had median cleft palate and another one had orofacial cleft.
Sources: Literature
Created: 11 Aug 2023, 12:49 p.m. | Last Modified: 11 Aug 2023, 12:50 p.m.
Panel Version: 4.85

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 11 Aug 2023, 12:49 p.m.
Last Modified: 11 Aug 2023, 12:50 p.m.
Panel version: 4.85

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
OMIM
300203
Clinvar variants
Variants in CDKL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CDKL5 was added gene: CDKL5 was added to Clefting. Sources: Literature Mode of inheritance for gene: CDKL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKL5 were set to 37010288 Review for gene: CDKL5 was set to RED