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Genetic epilepsy syndromes

Region: ISCA-37433-Loss

22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 18924718-20299686
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Rebecca Foulger (Genomics England curator)

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

Details

ISCA ID
ISCA-37433-Loss
ISCA Region Name
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Chromosome
22
GRCh38 Coordinates
18924718-20299686
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 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
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

14 Oct 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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