EpidasdAct - Genelist

#	Condition	Gene	OMIM ID
1	3 Hyperprolinemia, type II	ALDH4A1
2	3-methylglutaconic aciduria, type IX	TIMM50
A
3	Adenylosuccinase deficiency	ADSL	158
4	Alpha-thalassemia/mental retardation syndrome / Mental retardation-hypotonic facies syndrome, X-linked	ATRX	546
5	Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481;benign familial infantile convulsions;epilepsy and migraine;occipitotemporal epilepsy;infantile epileptic syndrome	ATP1A2	477
6	Angelman syndrome	UBE3A	7337
7	Arboleda-Tham syndrome	KAT6A
B
8	Biotinidase deficiency	BTD	686
9	Blepharophimosis-impaired intellectual development syndrome/Nicolaides-Baraitser syndrome	SMARCA2	6595
10	Brain small vessel disease with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant , {Hemorrhage, intracerebral, susceptibility to}	COL4A1	1282
11	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	KMT2D	8085
C
12	CHARGE syndrome / Hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	55636
13	CHIME syndrome	PIGL	9487
14	Cardiofaciocutaneous syndrome / LEOPARD syndrome 3 /Noonan syndrome 7	BRAF
15	Cerebral creatine deficiency syndrome 1	SLC6A8	6535
16	Cerebral creatine deficiency syndrome 2	GAMT	2593
17	Cerebrooculofacioskeletal syndrome 1/Cockayne syndrome, type B	ERCC6
18	Ceroid lipofuscinosis, neuronal, 1	PPT1	5538
19	Ceroid lipofuscinosis, neuronal, 10	CTSD
20	Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	CTSF	8722
21	Ceroid lipofuscinosis, neuronal, 2/Spinocerebellar ataxia, autosomal recessive 7	TPP1	1200
22	Ceroid lipofuscinosis, neuronal, 3	CLN3	1201
23	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant	DNAJC5
24	Ceroid lipofuscinosis, neuronal, 5	CLN5	1203
25	Ceroid lipofuscinosis, neuronal, 6A	CLN6	54982
26	Ceroid lipofuscinosis, neuronal, 7,	MFSD8	256471
27	Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant	CLN8	2055
28	Charcot-Marie-Tooth disease, type 2B2 /Ataxia-oculomotor apraxia 4/Microcephaly, seizures, and developmental delay	PNKP	11284
29	Childhood absence epilepsy/Epilepsy, rolandic	SCN9A
30	Citrullinemia, adult-onset type II	SLC25A13	10165
31	Coenzyme Q10 deficiency, primary, 3	PDSS2
32	Coenzyme Q10 deficiency, primary, 4	COQ8A
33	Coffin-Siris syndrome 1, 135900	ARID1B	57492
34	Combined oxidative phosphorylation deficiency 11	RMND1
35	Combined oxidative phosphorylation deficiency 14/Spastic paraplegia 77, autosomal recessive	FARS2
36	Combined oxidative phosphorylation deficiency 20	VARS2
37	Combined oxidative phosphorylation deficiency 23	GTPBP3
38	Combined oxidative phosphorylation deficiency 24	NARS2
39	Congenital contractures of the limbs and face, hypotonia, and developmental delay, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	NALCN
40	Congenital disorder of glycosylation, type Iim	SLC35A2	7355
41	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13
42	Convulsions, familial infantile, with paroxysmal choreoathetosis/Episodic kinesigenic dyskinesia 1/Seizures, benign familial infantile, 2	PRRT2	112476
43	Cornelia de Lange syndrome 2/Developmental and epileptic encephalopathy 85, with or without midline brain defects	SMC1A	8243
44	Cowden syndrome 1/Lhermitte-Duclos disease/Macrocephaly/autism syndrome	PTEN	5728
D
45	Developmental and epileptic encephalopathy 11/Episodic ataxia, type 9/Seizures, benign familial infantile, 3	SCN2A	6326
46	Developmental and epileptic encephalopathy 12	PLCB1	23236
47	Developmental and epileptic encephalopathy 14/Epilepsy nocturnal frontal lobe, 5	KCNT1	57582
48	Developmental and epileptic encephalopathy 15/Intellectual developmental disorder, autosomal recessive 12	ST3GAL3	6487
49	Developmental and epileptic encephalopathy 16/DOORS syndrome/Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp/Myoclonic epilepsy, infantile, familial	TBC1D24	57465
50	Developmental and epileptic encephalopathy 17/Neurodevelopmental disorder with involuntary movements	GNAO1	2775
51	Developmental and epileptic encephalopathy 18	SZT2
52	Developmental and epileptic encephalopathy 19/{Epilepsy, childhood absence, susceptibility to, 4}	GABRA1	2554
53	Developmental and epileptic encephalopathy 2	CDKL5	6792
54	Developmental and epileptic encephalopathy 21	NECAP1	25977
55	Developmental and epileptic encephalopathy 23	DOCK7	85440
56	Developmental and epileptic encephalopathy 24/Generalized epilepsy with febrile seizures plus, type 10	HCN1	348980
57	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	SLC13A5	284111
58	Developmental and epileptic encephalopathy 26	KCNB1	3745
59	Developmental and epileptic encephalopathy 27/Intellectual developmental disorder, autosomal dominant 6, with or without seizures	GRIN2B	2904
60	Developmental and epileptic encephalopathy 28/Spinocerebellar ataxia, autosomal recessive 12	WWOX	51741
61	Developmental and epileptic encephalopathy 3	SLC25A22	79751
62	Developmental and epileptic encephalopathy 30	SIK1
63	Developmental and epileptic encephalopathy 31	DNM1	1759
64	Developmental and epileptic encephalopathy 32	KCNA2	3737
65	Developmental and epileptic encephalopathy 33 / Intellectual developmental disorder, autosomal dominant 38	EEF1A2	1917
66	Developmental and epileptic encephalopathy 35	ITPR1	3708
67	Developmental and epileptic encephalopathy 36 / Congenital disorder of glycosylation, type Is;Infantile spasms and LGS	ALG13	79868
68	Developmental and epileptic encephalopathy 37	FRRS1L
69	Developmental and epileptic encephalopathy 4	STXBP1	6812
70	Developmental and epileptic encephalopathy 42 / Episodic ataxia, type 2 / Migraine, familial hemiplegic, 1 / Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia / Spinocerebellar ataxia 6	CACNA1A	773
71	Developmental and epileptic encephalopathy 43/{Epilepsy, childhood absence, susceptibility to, 5}	GABRB3	2562
72	Developmental and epileptic encephalopathy 46	GRIN2D
73	Developmental and epileptic encephalopathy 5	SPTAN1	6709
74	Developmental and epileptic encephalopathy 50	CAD
75	Developmental and epileptic encephalopathy 52/Generalized epilepsy with febrile seizures plus, type 1	SCN1B	6324
76	Developmental and epileptic encephalopathy 53/Parkinson disease 20, early-onset	SYNJ1
77	Developmental and epileptic encephalopathy 55	PIGP	51227
78	Developmental and epileptic encephalopathy 57	KCNT2	343450
79	Developmental and epileptic encephalopathy 62/Epilepsy, familial focal, with variable foci 4	SCN3A	6328
80	Developmental and epileptic encephalopathy 6B, non-Dravet/Dravet syndrome/Febrile seizures, familial, 3A/Generalized epilepsy with febrile seizures plus, type 2/Migraine, familial hemiplegic, 3	SCN1A	6323
81	Developmental and epileptic encephalopathy 7/Myokymia/Seizures, benign neonatal, 1	KCNQ2	3785
82	Developmental and epileptic encephalopathy 74/Febrile seizures, familial, 8/Generalized epilepsy with febrile seizures plus, type 3	GABRG2	2566
83	Developmental and epileptic encephalopathy 80	PIGB
84	Developmental and epileptic encephalopathy 82	GOT2
85	Developmental and epileptic encephalopathy 9	PCDH19	57526
86	Developmental and epileptic encephalopathy 94	CHD2	1106
87	Developmental and epileptic encephalopathy 95	PIGS
88	Developmental and epileptic encephalopathy, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300004	ARX
89	Developmental delay with variable intellectual impairment and behavioral abnormalities	TCF20
90	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities/Floating-Harbor syndrome	SRCAP	10847
E
91	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	MFF
92	Encephalopathy, familial, with neuroserpin inclusion bodies	SERPINI1	5274
93	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 / Optic atrophy 5	DNM1L
94	Encephalopathy, neonatal severe, Intellectual developmental disorder, X-linked syndromic 13, Intellectual developmental disorder, X-linked syndromic, Lubs type, Rett syndrome	MECP2	4204
95	Epilepsy, early-onset, 1, vitamin B6-dependent	PLPBP	11212
96	Epilepsy, familial focal, with variable foci 1	DEPDC5	9681
97	Epilepsy, familial focal, with variable foci 2	NPRL2	10641
98	Epilepsy, familial focal, with variable foci 3	NPRL3	8131
99	Epilepsy, familial temporal lobe, 1	LGI1	9211
100	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	GRIN2A	2903
101	Epilepsy, idiopathic generalized, susceptibility to, 12}/Dystonia 9/GLUT1 deficiency syndrome 1, infantile onset, severe/GLUT1 deficiency syndrome 2, childhood onset/Stomatin-deficient cryohydrocytosis with neurologic defects	SLC2A1	6513
102	Epilepsy, nocturnal frontal lobe, 1	CHRNA4	1137
103	Epilepsy, nocturnal frontal lobe, 3	CHRNB2	1141
104	Epilepsy, nocturnal frontal lobe, type 4	CHRNA2	1135
105	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	CSTB	1476
106	Epilepsy, progressive myoclonic 2A (Lafora)	EPM2A	7957
107	Epilepsy, progressive myoclonic 2B (Lafora)	NHLRC1	378884
108	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	KCTD7	154881
109	Epilepsy, progressive myoclonic 4, with or without renal failure	SCARB2	950
110	Epilepsy, progressive myoclonic 7	KCNC1	3746
111	Epilepsy, pyridoxine-dependent 266100	ALDH7A1	501
112	Epileptic encephalopathy, early infantile, 29 616339	AARS1	601065
F
113	Focal cortical dysplasia, type II, somatic, Smith-Kingsmore syndrome	MTOR	2475
114	Focal cortical dysplasia, type II, somatic/ Focal cortical dysplasia, type II, somatic	TSC1	7248
115	Focal cortical dysplasia, type II, somatic/Lymphangioleiomyomatosis, somatic/Tuberous sclerosis-2	TSC2	7249
116	Frontotemporal lobar degeneration with ubiquitin-positive inclusions/Aphasia, primary progressive	GRN
G
117	GABA-transaminase deficiency 613163	ABAT	137150
118	Generalized epilepsy with febrile seizures plus, type 9	STX1B	112755
119	Glass syndrome	SATB2	23314
120	Glutaric acidemia IIA	ETFA
121	Glutaric acidemia IIB	ETFB
122	Glutaric acidemia IIC	ETFDH
123	Glycine encephalopathy	GLDC	2731
124	Glycine encephalopathy 605899	AMT	275
125	Glycosylphosphatidylinositol biosynthesis defect 11	PIGW	284098
126	Glycosylphosphatidylinositol biosynthesis defect 16	PIGC
127	Glycosylphosphatidylinositol biosynthesis defect 17	PIGH
128	Glycosylphosphatidylinositol deficiency	PIGM	93183
H
129	Helsmoortel-van der Aa syndrome	ADNP	23394
130	Hogue-Janssens syndrome 1	PPP2R5D	5528
131	Hyperphosphatasia with impaired intellectual development syndrome 1	PIGV	55650
132	Hyperphosphatasia with impaired intellectual development syndrome 2	PIGO	84720
133	Hyperphosphatasia with impaired intellectual development syndrome 6	PIGY	84992
134	Hypomagnesemia 1, intestinal	TRPM6
I
135	Impaired intellectual development and distinctive facial features with or without cardiac defects	MED13L	23389
136	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / Intellectual developmental disorder, with or without nystagmus / FG syndrome 4	CASK	8573
137	Intellectual developmental disorder with language impairment with or without autistic features	FOXP1	27086
138	Intellectual developmental disorder, X-linked 1	IQSEC2	23096
139	Intellectual developmental disorder, X-linked 98	NEXMIF	340533
140	Intellectual developmental disorder, X-linked syndromic, Turner type	HUWE1	10075
141	Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type	DDX3X	1654
142	Intellectual developmental disorder, autosomal dominant 1	MBD5	55777
143	Intellectual developmental disorder, autosomal dominant 13 / Charcot-Marie-Tooth disease, axonal, type 2O / Spinal muscular atrophy, lower extremity-predominant 1, AD	DYNC1H1	1778
144	Intellectual developmental disorder, autosomal dominant 23	SETD5	55209
145	Intellectual developmental disorder, autosomal dominant 26	AUTS2	26053
146	Intellectual developmental disorder, autosomal dominant 29/Schinzel-Giedion midface retraction syndrome	SETBP1	26040
147	Intellectual developmental disorder, autosomal dominant 42	GNB1
148	Intellectual developmental disorder, autosomal dominant 5	SYNGAP1	8831
149	Intellectual developmental disorder, autosomal dominant 7	DYRK1A	1859
K
150	KBG syndrome	ANKRD11	29123
151	Kleefstra syndrome 1	EHMT1	79813
152	Kohlschutter-Tonz syndrome	ROGDI
L
153	LEOPARD syndrome 1/Noonan syndrome 1	PTPN11	5781
154	Lacticacidemia due to PDX1 deficiency	PDHX	8050
155	Leukemia, juvenile myelomonocytic/Neurofibromatosis-Noonan syndrome/Neurofibromatosis, familial spinal/Neurofibromatosis, type 1/Watson syndrome	NF1	4763
156	Lissencephaly 1/Subcortical laminar heterotopia	PAFAH1B1	5048
157	Lujan-Fryns syndrome, Ohdo syndrome, X-linked, Opitz-Kaveggia syndrome	MED12	9968
M
158	Menke-Hennekam syndrome 1	CREBBP	1387
159	Menke-Hennekam syndrome 2/Rubinstein-Taybi syndrome 2	EP300	2033
160	Menkes disease / Occipital horn syndrome / Spinal muscular atrophy, distal, X-linked 3	ATP7A	538
161	Mitochondrial DNA depletion syndrome 4A (Alpers type)/Mitochondrial DNA depletion syndrome 4B (MNGIE type)/Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)/Progressive external ophthalmoplegia, autosomal dominant 1/Progressive external ophthalmoplegia, autosomal recessive 1	POLG	5428
162	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)/Mitochondrial DNA depletion syndrome 8B (MNGIE type)/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	RRM2B
163	Mitochondrial complex IV deficiency, nuclear type 3	COX10
164	Molybdenum cofactor deficiency A	MOCS1	4337
165	Mowat-Wilson syndrome	ZEB2	9839
166	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556
167	Multiple congenital anomalies-hypotonia-seizures syndrome 2/Neurodevelopmental disorder with epilepsy and hemochromatosis/Paroxysmal nocturnal hemoglobinuria, somatic	PIGA	5277
168	Multiple congenital anomalies-hypotonia-seizures syndrome 4	PIGQ	9091
169	Multiple mitochondrial dysfunctions syndrome 6	PMPCB	9512
170	Myoclonic-atonic epilepsy	SLC6A1	6529
171	Myoclonus, familial, 2 /Cognitive impairment with or without cerebellar ataxia/Developmental and epileptic encephalopathy 13/Seizures, benign familial infantile, 5	SCN8A	6334
N
172	NESCAV syndrome/Neuropathy, hereditary sensory, type IIC/Spastic paraplegia 30, autosomal dominant/Spastic paraplegia 30, autosomal recessive	KIF1A	547
173	Neurodegeneration due to cerebral folate transport deficiency	FOLR1	2348
174	Neurodegeneration with brain iron accumulation 5	WDR45	11152
175	Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis	PIGU
176	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures / Rigidity and multifocal seizure syndrome, lethal neonatal	BRAT1
177	Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	SPATA5
178	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	PIGK
179	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	MEF2C	4208
180	Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties	PURA	5813
181	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant/Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive/ Developmental and epileptic encephalopathy 101	GRIN1	2902
182	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	PIGG	54872
183	Neurodevelopmental disorder with spastic diplegia and visual defects	CTNNB1	1499
O
184	Ornithine transcarbamylase deficiency	OTC	5009
P
185	Paroxysmal nocturnal hemoglobinuria 2 /Multiple congenital anomalies-hypotonia-seizures syndrome 3	PIGT	51604
186	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy/Liang-Wang syndrome/Cerebellar atrophy, developmental delay, and seizures	KCNMA1	3778
187	Phosphoserine phosphatase deficiency	PSPH
188	Pitt-Hopkins like syndrome 1, {Autism susceptibility 15}	CNTNAP2	26047
189	Pitt-Hopkins syndrome	TCF4	6925
190	Polyhydramnios, megalencephaly, and symptomatic epilepsy	STRADA
191	Pyridoxamine 5'-phosphate oxidase deficiency	PNPO	55163
R
192	Raynaud-Claes syndrome	CLCN4	1183
193	Rett syndrome, congenital variant	FOXG1	2290
S
194	Schuurs-Hoeijmakers syndrome	PACS1	55690
195	Seizures, benign neonatal, 2	KCNQ3	3786
196	Sotos syndrome	NSD1	64324
T
197	Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)	SLC19A3
W
198	White-Sutton syndrome	POGZ	23126
199	Wiedemann-Steiner syndrome'	KMT2A	4297
X
200	Xia-Gibbs syndrome	AHDC1