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Severe microcephaly

Gene: CDK6

Amber List (moderate evidence)
CDK6 (cyclin dependent kinase 6)
EnsemblGeneIds (GRCh38): ENSG00000105810
EnsemblGeneIds (GRCh37): ENSG00000105810
OMIM: 603368, Gene2Phenotype
CDK6 is in 1 panel

3 reviews

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: There are now 2 unrelated probands reported in literature with biallelic CDK6 variants and severe microcephaly (more than 3SD below average). Hence, this gene can be rated Amber with current evidence. A 'watchlist' tag was added in anticipation of further reports.
Created: 14 Aug 2026, 2:50 p.m. | Last Modified: 14 Aug 2026, 2:50 p.m.
Panel Version: 9.24
PMID: 41856556 Isik et al., 2026
Report of a female child (Case 3, 7.5 yrs old) homozygous for a CDK6 missense variant NM_001145306: c.461C>T, (p.Thr154Ile) with microcephaly, brain atrophy, neutropenia and ovarian failure. Variant not present in gnomAD v4.1.1. Seq method: WES, parents confirmed carriers by Sanger seq. Parents are consanguineous.
Microcephaly was severe, with head circumference (HC) of 41 cm/−7.3 SD for age. HC at birth was 30 cm/−2.48 SD. In addition, she had moderate intellectual disability, dysmorphic facial features, and cerebral atrophy and hypomyelination on MRI.

Individuals in PMID:23918663 (see review by Rebecca Foulger) had severe microcephaly of -4 SD and -6SD.
Created: 14 Aug 2026, 2:44 p.m. | Last Modified: 14 Aug 2026, 2:48 p.m.
Panel Version: 9.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Microcephaly 12, primary, autosomal recessive, OMIM:616080; microcephaly 12, primary, autosomal recessive, MONDO:0014484

Publications

Created: 14 Aug 2026, 2:44 p.m.
Last Modified: 14 Aug 2026, 2:48 p.m.
Panel version: 9.23

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Created: 29 Jul 2019, 4:18 p.m.
Last Modified: 29 Jul 2019, 4:18 p.m.
Panel version: 1.62

Rebecca Foulger (Genomics England curator)

PMID:23918663 studied a consanguineous eight-generation family from Pakistan with ten microcephalic children and report a homozygous single nucleotide substitution c.589G>A in CDK6, resulting in p.Ala197Thr. Post hoc whole-exome sequencing corroborated this mutation's identification as the causal variant.
Created: 13 Dec 2016, 10:43 a.m.
Created: 13 Dec 2016, 10:43 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Other
  • Literature
Phenotypes
  • ?Microcephaly 12, primary, autosomal recessive, OMIM:616080
  • microcephaly 12, primary, autosomal recessive, MONDO:0014484
Tags
watchlist
OMIM
603368
Clinvar variants
Variants in CDK6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Aug 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag watchlist tag was added to gene: CDK6.

14 Aug 2026, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: CDK6 were set to 25951892; 25548773; 23918663

14 Aug 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: CDK6 were changed from Autosomal recessive primary microcephaly (MCPH) ; ?Microcephaly 12, primary, autosomal recessive, 616080 to ?Microcephaly 12, primary, autosomal recessive, OMIM:616080; microcephaly 12, primary, autosomal recessive, MONDO:0014484

14 Aug 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

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

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CDK6.

2 Mar 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

CDK6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CDK6 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CDK6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CDK6 was created by rfoulger