Early onset or syndromic epilepsy
Gene: CHD2
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: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD Epileptic encephalopathy. Rauch et al, 2012 - 51 patients with ID, girl with epilepsy - de novo het truncating variant. Carvill et al, 2013 - 500 epilepsy patients - 6 unrelated patients with childhood epilepsy, 6 diff de novo het mutations - 4 truncating, 2 missense (at highly conserved residues). Suls et al 2013 - 3 unrelated epilepsy patients - 3 diff de novo het mutations. No functional studies. Lots more reported variants on HGMD Pro.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
Epileptic encephalopathy, childhood-onset,615369
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment on phenotypes: Sourced from gene2phenotypeCreated: 17 Dec 2015, 3:03 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.Created: 17 Dec 2015, 3:02 p.m.
Source Wessex and West Midlands GLH was added to CHD2.
Source NHS GMS was added to CHD2.
Ellen McDonagh: Comment on mode of inheritance
Phenotypes for gene: CHD2 were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, childhood-onset 615369
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CHD2. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to CHD2. Panel: Genetic Epilepsy Syndromes
CHD2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN,Radboud University Medical Center, Nijmegen
CHD2 was created by Sarah Leigh