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Intellectual disability syndromic and non-syndromic

Gene: CDK5R1

Red List (low evidence)

CDK5R1 (cyclin dependent kinase 5 regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000176749
EnsemblGeneIds (GRCh37): ENSG00000176749
OMIM: 603460, Gene2Phenotype
CDK5R1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Contradictory evidence from deletions.
Created: 1 Feb 2020, 3:14 a.m. | Last Modified: 1 Feb 2020, 3:14 a.m.
Panel Version: 0.1847

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; autism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability
  • autism
OMIM
603460
Clinvar variants
Variants in CDK5R1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5r1 has been classified as Red List (Low Evidence).

1 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism

1 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDK5R1 were set to

1 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5r1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK5R1 was added gene: CDK5R1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK5R1 was set to Unknown