Kabuki syndrome
Gene: CDK13EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 15 unrelated individuals reported, Kabuki-like.
Sources: Expert ReviewCreated: 28 Mar 2021, 11:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360
- OMIM
- 603309
- Clinvar variants
- Variants in CDK13
- 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: cdk13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdk13 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDK13 was added gene: CDK13 was added to Kabuki syndrome. Sources: Expert Review Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK13 were set to 29021403; 29393965; 30904094 Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360 Review for gene: CDK13 was set to GREEN