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Severe Paediatric Disorders

Gene: CDK5RAP2

Green List (high evidence)

CDK5RAP2 (CDK5 regulatory subunit associated protein 2)
EnsemblGeneIds (GRCh38): ENSG00000136861
EnsemblGeneIds (GRCh37): ENSG00000136861
OMIM: 608201, Gene2Phenotype
CDK5RAP2 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: CDK5RAP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly 3, primary, autosomal recessive, 604804 (3); Mode of inheritance: Autosomal recessive
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
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, 604804
OMIM
608201
Clinvar variants
Variants in CDK5RAP2
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 CDK5RAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CDK5RAP2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Microcephaly 3, primary, autosomal recessive, 604804 for gene: CDK5RAP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Microcephaly 3, primary, autosomal recessive, 604804 for gene: CDK5RAP2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Microcephaly 3, primary, autosomal recessive, 604804 for gene: CDK5RAP2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Microcephaly 3, primary, autosomal recessive, 604804 for gene: CDK5RAP2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CDK5RAP2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CDK5RAP2. 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: CDK5RAP2 was added gene: CDK5RAP2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CDK5RAP2 was set to