Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ASAH1 gene ASAH1 Expert list;Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000104763 ENSG00000104763 HGNC:735 ATP13A2 gene ATP13A2 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Juvenile parkinsonism-neuronal ceroid lipofuscinosis Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000159363 ENSG00000159363 HGNC:30213 BRAT1 gene BRAT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rigidity and multifocal seizure syndrome, lethal neonatal 614498 Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000106009 ENSG00000106009 HGNC:21701 CERS1 gene CERS1 Expert list;Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 8, 616230 Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000223802 ENSG00000223802 HGNC:14253 CLN3 gene CLN3 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 204200 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM#256731 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300;Ceroid lipofuscinosis, neuronal, 6, 601780 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003;Ceroid lipofuscinosis, neuronal, 8 600143 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000182372 ENSG00000182372 HGNC:2079 CSTB gene CSTB Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Myoclonic seizure;HP:0032794 9012407;9054946 False 3 100;0;0 0.19 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTSD gene CTSD Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000174080 ENSG00000174080 HGNC:2531 DNAJC5 gene DNAJC5 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant Kufs disease;generalized tonic clonic seizures;Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 Myoclonic seizure;HP:0032794 22978711;21820099;22235333;31919451;26659577 False 3 0;0;0 0.19 True ENSG00000101152 ENSG00000101152 HGNC:16235 EPM2A gene EPM2A Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora) 254780 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000112425 ENSG00000112425 HGNC:3413 FARS2 gene FARS2 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14, 614946 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000145982 ENSG00000145982 HGNC:21062 FBXO28 gene FBXO28 Expert Review Green;Literature Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 100 , MIM#619777 Myoclonic seizure;HP:0032794 33280099 False 3 100;0;0 0.19 True ENSG00000143756 ENSG00000143756 HGNC:29046 FOLR1 gene FOLR1 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;seizures Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000110195 ENSG00000110195 HGNC:3791 GABRB2 gene GABRB2 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 2, 617829 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000145864 ENSG00000145864 HGNC:4082 GOSR2 gene GOSR2 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000108433 ENSG00000108433 HGNC:4431 GRN gene GRN Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, MIM#614706 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000030582 ENSG00000030582 HGNC:4601 KCNC1 gene KCNC1 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, progressive myoclonic 7 616187 Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000129159 ENSG00000129159 HGNC:6233 KCTD7 gene KCTD7 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000243335 ENSG00000243335 HGNC:21957 MFSD8 gene MFSD8 Expert list;Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 610951 Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000164073 ENSG00000164073 HGNC:28486 NEU1 gene NEU1 Expert list;Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sialidosis, type II Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000204386 ENSG00000204386 HGNC:7758 NHLRC1 gene NHLRC1 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000187566 ENSG00000187566 HGNC:21576 POLG gene POLG Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA depletion syndrome 4B (MNGIE type);Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000140521 ENSG00000140521 HGNC:9179 PPT1 gene PPT1 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 256730 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000131238 ENSG00000131238 HGNC:9325 SCARB2 gene SCARB2 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure 254900 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000138760 ENSG00000138760 HGNC:1665 SERPINI1 gene SERPINI1 Expert list;Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Encephalopathy, familial, with neuroserpin inclusion bodies Myoclonic seizure;HP:0032794 False 3 100;0;0 0.19 False ENSG00000163536 ENSG00000163536 HGNC:8943 TBC1D24 gene TBC1D24 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 16 615338;DOORS syndrome 220500;Myoclonic epilepsy, infantile, familial 605021 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000162065 ENSG00000162065 HGNC:29203 TPP1 gene TPP1 Expert Review Green;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 204500 Myoclonic seizure;HP:0032794 False 3 0;0;0 0.19 False ENSG00000166340 ENSG00000166340 HGNC:2073 AFG3L2 gene AFG3L2 Expert Review Red;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome Myoclonic seizure;HP:0032794 False 1 0;100;0 0.19 False ENSG00000141385 ENSG00000141385 HGNC:315 PRICKLE1 gene PRICKLE1 Expert Review Red;Royal Melbourne Hospital Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B 612437 Myoclonic seizure;HP:0032794 18976727;30564977 False 1 0;0;100 0.19 True ENSG00000139174 ENSG00000139174 HGNC:17019 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Progressive Myoclonic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12, MIM# 619191 Myoclonic seizure;HP:0032794 33085104 False 1 0;0;100 0.19 True ENSG00000103061 ENSG00000103061 HGNC:25807