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Microcephaly

Gene: CDKL5

Amber List (moderate evidence)

CDKL5 (cyclin dependent kinase like 5)
EnsemblGeneIds (GRCh38): ENSG00000008086
EnsemblGeneIds (GRCh37): ENSG00000008086
OMIM: 300203, Gene2Phenotype
CDKL5 is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Progressive microcephaly described in OMIM

PMID: 15689447;
- 2 females both with fs variants
- patient A: born with 50th centile head circumference but was <3rd centile at 1year
- patient B: 10th centile

PMID: 19396824;
- 1x female with head circumference of -0.63SD and de novo missense

PMID: 22678952;
- 12 females with 3 described to have 'absolute microcephaly' (<3rd centile)

PMID: 31122804;
- 2 males and 2 females, all PTVs
- only 1 male with microcephaly (no measurements provided)
- table 2 shows a total of 122 reported patients with 65 presenting with 'acquired microcephaly' However, PMID: 30928302 states less than 10% present with microcephaly and deceleration of head growth
Created: 2 Sep 2020, 2:48 a.m. | Last Modified: 2 Sep 2020, 2:48 a.m.
Panel Version: 0.273

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epileptic encephalopathy, early infantile, 2 (MIM#300672)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 2 (MIM#300672)
OMIM
300203
Clinvar variants
Variants in CDKL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdkl5 has been classified as Amber List (Moderate Evidence).

2 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2 (MIM#300672)

2 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDKL5 were set to

2 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdkl5 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDKL5 was added gene: CDKL5 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDKL5 was set to Unknown