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

7 reviewers

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Karina Sandoval (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

17 Entities

10 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green Green List (high evidence)
ANK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038
Tags
Green Green List (high evidence)
CHRNA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1 600513
Tags
Green Green List (high evidence)
CHRNB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3 605375
Tags
Green Green List (high evidence)
CNTNAP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome
  • Pitt-Hopkins like syndrome 1
Tags
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)
KCNT1
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, 14
  • Epilepsy, nocturnal frontal lobe, 5
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)
NPRL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Epilepsy, familial focal, with variable foci 2, 617116
Tags
Green Green List (high evidence)
NPRL3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Epilepsy, familial focal, with variable foci 3, 617118
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)
RELN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autosomal dominant epilepsy with auditory features (ADEAF)
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)
TSC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-1 191100
Tags
Green Green List (high evidence)
TSC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Tuberous sclerosis-2 613254
  • Focal cortical dysplasia, type II, somatic 607341
Tags
Amber Amber List (moderate evidence)
MICAL1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • GREP
Phenotypes
  • Autosomal dominant epilepsy with auditory features (ADEAF)
Tags
Amber Amber List (moderate evidence)
PIK3C2B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • familial partial epilepsy - MONDO#0017704
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
  • Epilepsy, generalized, with febrile seizures plus, type 7 613863
  • {Dravet syndrome, modifier of} 607208
Tags

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