Early onset or syndromic epilepsy

Gene: CCND2

I don't know

Comment on list classification: Demoted CCND2 from Amber to Red following Red reviews by Zornitza Stark and Tracy Lester- as noted previously by Sarah Leigh: epilepsy is not a reported feature of the disorder.

Created: 8 Oct 2019, 10:04 a.m. | Last Modified: 8 Oct 2019, 10:04 a.m.

Panel Version: 1.360

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Red List (low evidence)

PI3K-AKTrelated megalencephaly syndrome

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938

Publications

• 24705253

Comment when marking as ready: Phenotype does not include seizures and to this gene is not relevant to the Genetic epilepsy syndromes panel.

Created: 1 Oct 2018, 11:14 a.m.

Red List (low evidence)

Seizures are not a reported feature.

Created: 10 Aug 2018, 4:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM#615938