Early onset or syndromic epilepsy
Region: ISCA-37433-Loss22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:10 p.m. | Last Modified: 16 Mar 2022, 1:10 p.m.
Panel Version: 2.500
PMID:30977115: Eaton et al., 2019: Overall, 11% (12/108) of deletion carriers had an epilepsy diagnosis. 57/96 remaining deletion carriers (59.4%) had seizures or seizure-like symptoms (including febrile seizures). Most patients with 22q11.2 deletion syndrome had either deletion type A-D (ISCA-37446 75.9%) or deletion type A-B (ISCA-37433 6.5% 7/108 patients)- see Table 1.Created: 14 Oct 2019, 10:14 a.m. | Last Modified: 14 Oct 2019, 10:14 a.m.
Panel Version: 1.364
Added CNV to panel on recommendation from Alisdair McNeill (SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST) who notes that "Multiple case series demonstrate 22q11.2 deletion syndrome is associated with epilepsy, e.g. PubMed:30977115" (personal communication via email, October 7th 2019).Created: 14 Oct 2019, 10:11 a.m. | Last Modified: 14 Oct 2019, 10:11 a.m.
Panel Version: 1.364
Phenotypes
Epilepsy; seizures; seizure-like symptoms
Publications
GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685. Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Region: ISCA-37433-Loss was added Region: ISCA-37433-Loss was added to Genetic epilepsy syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696 Phenotypes for Region: ISCA-37433-Loss were set to Learning difficulties; immune deficiency; renal anomalies; cleft palate, polydactyly; 22q11.2 deletion syndrome; diaphragmatic hernia; 192430; polyhydramnios; DiGeorge syndrome; Velocardiofacial syndrome; 188400; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; congenital heart disease