1. Panels
  2. Progressive Myoclonic Epilepsy

Progressive Myoclonic Epilepsy (Version 0.19)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Myoclonic seizure, HP:0032794
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.
Panel Activity

4 reviewers

  • Bryony Thompson (Royal Melbourne Hospital)

  • Shekeeb Mohammad (Children's Hospital at Westmead)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

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

33 Entities

14 reviewed, 30 green

List Entity Reviews Mode of inheritance Details
33 Entitiess
Green List (high evidence)
ASAH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Tags
Green List (high evidence)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Juvenile parkinsonism-neuronal ceroid lipofuscinosis
Tags
Green List (high evidence)
BRAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Tags
Green List (high evidence)
CERS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Epilepsy, progressive myoclonic, 8, 616230
Tags
Green List (high evidence)
CLN3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 204200
Tags
Green List (high evidence)
CLN5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, MIM#256731
Tags
Green List (high evidence)
CLN6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • Ceroid lipofuscinosis, neuronal, 6, 601780
Tags
Green List (high evidence)
CLN8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
  • Ceroid lipofuscinosis, neuronal, 8 600143
Tags
Green List (high evidence)
CSTB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Tags
  • 5'UTR
  • STR
Green List (high evidence)
CTSD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Green List (high evidence)
CTSF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Tags
Green List (high evidence)
DNAJC5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • autosomal dominant Kufs disease
  • generalized tonic clonic seizures
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Tags
Green List (high evidence)
EPM2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green List (high evidence)
FARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green List (high evidence)
FBXO28
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100 , MIM#619777
Tags
Green List (high evidence)
FOLR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • seizures
Tags
Green List (high evidence)
GABRB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2, 617829
Tags
Green List (high evidence)
GOSR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
Green List (high evidence)
GRN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11, MIM#614706
Tags
Green List (high evidence)
KCNC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 7 616187
Tags
Green List (high evidence)
KCTD7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Tags
Green List (high evidence)
MFSD8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 610951
Tags
Green List (high evidence)
NEU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sialidosis, type II
Tags
Green List (high evidence)
NHLRC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
Green List (high evidence)
POLG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type)
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Tags
Green List (high evidence)
PPT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1 256730
Tags
Green List (high evidence)
SCARB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Tags
Green List (high evidence)
SERPINI1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Encephalopathy, familial, with neuroserpin inclusion bodies
Tags
Green List (high evidence)
TBC1D24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epileptic encephalopathy, early infantile, 16 615338
  • DOORS syndrome 220500
  • Myoclonic epilepsy, infantile, familial 605021
Tags
Green List (high evidence)
TPP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2 204500
Tags
Red List (low evidence)
AFG3L2
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Tags
Red List (low evidence)
PRICKLE1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 1B 612437
Tags
Red List (low evidence)
SLC7A6OS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic, 12, MIM# 619191
Tags

Downloads

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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