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Intellectual disability

Gene: CDK19

Green List (high evidence)
CDK19 (cyclin dependent kinase 19)
EnsemblGeneIds (GRCh38): ENSG00000155111
EnsemblGeneIds (GRCh37): ENSG00000155111
OMIM: 614720, Gene2Phenotype
CDK19 is in 3 panels

3 reviews

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

De novo missense variants mapped to the kinase domain of CDK19 were described in 11 unrelated individuals (age range: 9 months to 14 years).Two recurrent changes at residues Tyr32 and Gly28 were identified.
One additional case report (PMID:33568421) described a 10-month-old male patient who presented with a neurodevelopmental syndrome characterized by infantile spasms and a de novo missense variant c.92C>A (p.Thr31Asn) (also in the kinase domain). This brings the total of cases reported in the literature to 15.
Created: 19 Feb 2021, 9:53 a.m. | Last Modified: 19 Feb 2021, 9:53 a.m.
Panel Version: 3.963

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental delay; hypotonia; seizures; autism/autistic traits

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Feb 2021, 9:53 a.m.
Last Modified: 19 Feb 2021, 9:53 a.m.
Panel version: 3.963

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data. Also suggest adding to epilepsy panel.
Created: 26 Apr 2020, 7:42 a.m. | Last Modified: 26 Apr 2020, 7:42 a.m.
Panel Version: 3.31

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; epileptic encephalopathy

Publications

Created: 26 Apr 2020, 7:42 a.m.
Last Modified: 26 Apr 2020, 7:42 a.m.
Panel version: 3.31

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 23 Feb 2021, 3:36 p.m. | Last Modified: 23 Feb 2021, 3:36 p.m.
Panel Version: 3.963
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive Drosophila, demonstating the effects of the variants (PMID 32330417).
Created: 7 Jul 2020, 4:19 p.m. | Last Modified: 7 Jul 2020, 4:19 p.m.
Panel Version: 3.150
Associated with phenotype in OMIM, not in G2P. PMID 20563892 reports a de novo pericentric inversion in chromosome 6 with breakpoints in 6p12.1 and 6q21 reported in a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Supporting in vitro and drosophila model data also included.Should this gene be added as a red gene with a structural variant tag to the ID panel and should it also be added to any other panels?
Created: 19 Dec 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation

Publications

Created: 19 Dec 2017, 5:15 p.m.

Panel version: 3.1510

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 87 618916
OMIM
614720
Clinvar variants
Variants in CDK19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: CDK19.

9 Mar 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CDK19.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CDK19. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Jul 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: CDK19.

7 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cdk19 has been classified as Amber List (Moderate Evidence).

7 Jul 2020, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CDK19 were changed from microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation to Epileptic encephalopathy, early infantile, 87 618916

7 Jul 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CDK19 were set to 20563892

7 Jul 2020, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CDK19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CDK19 was added to Intellectual disability panel. Sources: Literature,Expert Review Red

5 Jan 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CDK19 was created by Ellen McDonagh