Microcephaly
Gene: CDKL5
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 growthCreated: 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
Gene: cdkl5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2 (MIM#300672)
Publications for gene: CDKL5 were set to
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)
Gene: cdkl5 has been classified as Amber List (Moderate Evidence).
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