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Severe Paediatric Disorders

Gene: CDK13

Green List (high evidence)

CDK13 (cyclin dependent kinase 13)
EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CDK13; Recommended initial gene rating: Green List (high evidence); Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
OMIM
603309
Clinvar variants
Variants in CDK13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CDK13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CDK13 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CDK13.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CDK13. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CDK13 was added gene: CDK13 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CDK13 was set to