PanelApp (test)
  1. Panels
  2. Familial Generalised Epilepsy
Description
This panel was originally developed for the Genomic sequencing for Refractory EPilepsy (GREP) study (29/05/2019).
Panel Activity

4 reviewers

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

21 Entities

14 reviewed, 16 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green Green List (high evidence)
DEPDC5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, OMIM:604364
Tags
Green Green List (high evidence)
GABRA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • {Epilepsy, childhood absence, susceptibility to, 4} 611136
Tags
Green Green List (high evidence)
GABRB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
Tags
Green Green List (high evidence)
GABRG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
Tags
Green Green List (high evidence)
KCNMA1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
  • Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827
  • Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
Tags
Green Green List (high evidence)
KCNQ3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • Seizures, benign neonatal, type 2
Tags
Green Green List (high evidence)
LGI1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Epilepsy, familial temporal lobe, 1 600512
Tags
Green Green List (high evidence)
NEDD4L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular nodular heterotopia 7, 617201
Tags
Green Green List (high evidence)
PCDH19
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 9
Tags
Green Green List (high evidence)
PRRT2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Episodic kinesigenic dyskinesia 1
  • Seizures, benign familial infantile, 2
  • Convulsions, familial infantile, with paroxysmal choreoathetosis
Tags
Green Green List (high evidence)
SCN1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208
  • Epilepsy, generalized, with febrile seizures plus, type 2 604403
Tags
Green Green List (high evidence)
SCN1B
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Epileptic encephalopathy, early infantile, 52 617350 AR
  • Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD
Tags
Green Green List (high evidence)
SCN2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Seizures, benign familial infantile, 3 607745
  • Epileptic encephalopathy, early infantile, 11 613721
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
Tags
Green Green List (high evidence)
TRAK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Green
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 68 618201
Tags
Green Green List (high evidence)
USP25
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • USP25-related epilepsy (epilepsy, idiopathic generalized, MONDO:0005579)
Tags
Amber Amber List (moderate evidence)
CNTN2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • GREP
  • Literature
Phenotypes
  • Epilepsy, familial adult myoclonic, 5
Tags
Red Red List (low evidence)
CACNB4
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GREP
Phenotypes
  • {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682
Tags
Red Red List (low evidence)
CASR
1 review
 Not set
Sources
  • Expert Review Red
  • GREP
Phenotypes
  • {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899
Tags
Red Red List (low evidence)
CPA6
3 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Red
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, familial temporal lobe, 5 614417 AR, AD
  • Febrile seizures, familial, 11 614418
Tags
Red Red List (low evidence)
SCN9A
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert Review Red
  • GREP
  • Victorian Clinical Genetics Services
Phenotypes
  • {Dravet syndrome, modifier of} 607208
  • Epilepsy, generalized, with febrile seizures plus, type 7 613863
  • Febrile seizures, familial, 3B 613863
Tags

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