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 ATP1A3 gene ATP1A3 Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2, OMIM:614820;CAPOS syndrome, OMIM:601338;Developmental and epileptic encephalopathy 99, OMIM:619606;Dystonia-12, OMIM:128235 28465228;29801192;30011403;35390560;35943757 False 3 100;0;0 1.8 False ENSG00000105409 ENSG00000105409 HGNC:801 CHAT gene CHAT Expert list;Expert Review Green Recurrent episodic apnoea Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210;congenital myasthenic syndrome 6, MONDO:0009689 11172068;12756141 False 3 100;0;0 1.8 False ENSG00000070748 ENSG00000070748 HGNC:1912 GLRA1 gene GLRA1 Expert list;Expert Review Green Recurrent episodic apnoea Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, OMIM:149400 28122427 False 3 100;0;0 1.8 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert list;Expert Review Green Recurrent episodic apnoea Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, OMIM:614619 24030948;28173650 False 3 100;0;0 1.8 False ENSG00000109738 ENSG00000109738 HGNC:4329 KCNQ2 gene KCNQ2 Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myokymia, OMIM:121200;Seizures, benign neonatal, 1, OMIM:121200;seizures, benign familial neonatal, 1, MONDO:0007365 9425895;9430594;17872363;16966552 False 3 100;0;0 1.8 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNT1 gene KCNT1 Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 14, OMIM:614959;developmental and epileptic encephalopathy, 14, MONDO:0013989 24029078;7555952;15816952 False 3 100;0;0 1.8 False ENSG00000107147 ENSG00000107147 HGNC:18865 PHOX2B gene PHOX2B Expert list;Expert Review Green Recurrent episodic apnoea Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880;central hypoventilation syndrome, congenital, MONDO:0800031 30672101;29543228;12438263;12640453 False 3 100;0;0 1.8 False ENSG00000109132 ENSG00000109132 HGNC:9143 PRRT2 gene PRRT2 Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066;infantile convulsions and choreoathetosis, MONDO:0011178;Episodic kinesigenic dyskinesia 1, OMIM:128200;episodic kinesigenic dyskinesia 1, MONDO:0100352;Seizures, benign familial infantile, 2, OMIM: 605751;seizures, benign familial infantile, 2, MONDO:0011593 10908896;22243967;22832103;22120146;22744660 False 3 100;0;0 1.8 False ENSG00000167371 ENSG00000167371 HGNC:30500 RAPSN gene RAPSN Expert list;Expert Review Green Recurrent episodic apnoea Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326;congenital myasthenic syndrome 11, MONDO:0014588 16931511;14504330;29189923 False 3 100;0;0 1.8 False ENSG00000165917 ENSG00000165917 HGNC:9863 SCN1A gene SCN1A Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 6B, non-Dravet, OMIM:619317;Dravet syndrome, OMIM:607208;Febrile seizures, familial, 3A, OMIM:604403;Generalized epilepsy with febrile seizures plus, type 2, OMIM:604403;Migraine, familial hemiplegic, 3, OMIM:609634 35696452 False 3 100;0;0 1.8 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures, benign familial infantile, 3, OMIM:607745;seizures, benign familial infantile, 3 MONDO:0011904 15048894;28379373 False 3 100;0;0 1.8 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN4A gene SCN4A Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390;Myasthenic syndrome, congenital, 16, OMIM:614198 20713951;31440732;31732390;32509969 False 3 100;0;0 1.8 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN8A gene SCN8A Expert list;Expert Review Green Recurrent episodic apnoea Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 13, OMIM: 614558;developmental and epileptic encephalopathy, 13, MONDO:0013801;Seizures, benign familial infantile, 5, OMIM:617080;seizures, benign familial infantile, 5, MONDO:0014903 27210545;24888894;32846312;31675620;32889434;36160949;30078772 False 3 100;0;0 1.8 False ENSG00000196876 ENSG00000196876 HGNC:10596 SLC6A5 gene SLC6A5 Expert list;Expert Review Green Recurrent episodic apnoea Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3, OMIM:614618 24030948;27843043;31604777 False 3 100;0;0 1.8 False ENSG00000165970 ENSG00000165970 HGNC:11051