Gene: CDK13

Alternate names for this Gene: CDC2L|CDC2L5|CHDFIDD|CHED|hCDK13

Gene Summary: The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.1

Description of this Gene: cyclin dependent kinase 13

Type of Gene: protein-coding

rs1554333853 in CDK13 gene and Abnormal delivery PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Absent proximal finger flexion creases PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Absent speech PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Absent/hypoplastic coccyx PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Anteverted nostril PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Asphyxia Neonatorum PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Atrial Septal Defects PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Birth length less than 3rd percentile PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Brachyonychia PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

rs1554333853 in CDK13 gene and Cerebral white matter atrophy PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Clinodactyly of the 5th finger PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Congenital Epicanthus PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Congenital clubfoot PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Contracture of tendo achilles PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Dilated ventricles (finding) PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Duplicated collecting system PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs878853160 in CDK13 gene and Dysmorphic features PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 29222009 2018 Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 29021403 2018 Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 24999027 2014 Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.

rs1554333853 in CDK13 gene and Flat face PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Focal white matter lesions PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Global developmental delay PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and High, narrow palate PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Highly arched eyebrow PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Hypertrophy of clitoris PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Hypoplasia of the optic nerve PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Hypoplastic coccygeal vertebrae PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Hypoplastic feet PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Large fleshy ears PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Long narrow head PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Low set ears PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Micrognathism PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Microstomia PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs878853160 in CDK13 gene and Multiple congenital anomalies PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

PMID 29222009 2018 Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

PMID 29021403 2018 Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 24999027 2014 Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

rs1554333853 in CDK13 gene and Multiple suture craniosynostosis PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Muscle Hypertonia PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1057519632 in CDK13 gene and Muscle hypotonia PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 24999027 2014 Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 29222009 2018 Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

PMID 29021403 2018 Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Neonatal respiratory distress PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Opisthotonus PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Orbital separation excessive PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Overfolding of the superior helices PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Polyhydramnios PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Poor head control PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Primary Caesarian section PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Prominent coccyx PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Prominent fingertip pads PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Prominent glabella PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Prominent nasal bridge PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Pulmonary Stenosis PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Relative macrocephaly PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Respiratory insufficiency due to muscle weakness PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Short nose PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Skin dimple PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Small for gestational age (disorder) PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Small hand PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Tapering fingers (finding) PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Upper airway obstruction PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1554333853 in CDK13 gene and Wide spaced nipples PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.