Early onset or syndromic epilepsy
Gene: CCND2
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
PI3K-AKTrelated megalencephaly syndromeCreated: 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
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.
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
Gene: ccnd2 has been classified as Red List (Low Evidence).
Gene: ccnd2 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCND2 were set to
Phenotypes for gene: CCND2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
Source Wessex and West Midlands GLH was added to CCND2.
Source NHS GMS was added to CCND2.
Zornitza Stark: Seizures are not a reported fe
Gene: ccnd2 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to CCND2. Panel: Genetic Epilepsy Syndromes
CCND2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
CCND2 was created by Sarah Leigh