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Intellectual disability syndromic and non-syndromic

Gene: CDK6

Amber List (moderate evidence)

CDK6 (cyclin dependent kinase 6)
EnsemblGeneIds (GRCh38): ENSG00000105810
EnsemblGeneIds (GRCh37): ENSG00000105810
OMIM: 603368, Gene2Phenotype
CDK6 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported.
Created: 26 Nov 2019, 9:49 a.m. | Last Modified: 26 Nov 2019, 9:49 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 12, primary, autosomal recessive, MIM#616080

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 12, primary, autosomal recessive, MIM#616080
OMIM
603368
Clinvar variants
Variants in CDK6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk6 has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080

6 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDK6 were set to

6 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk6 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK6 was added gene: CDK6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK6 was set to Unknown