DEE18
MCID: DVL046
MIFTS: 30

Developmental and Epileptic Encephalopathy 18 (DEE18)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 18

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 18:

Name: Developmental and Epileptic Encephalopathy 18 57 12
Early Infantile Epileptic Encephalopathy 18 12 20 29 6
Epileptic Encephalopathy, Early Infantile, 18 57 72 70
Dee18 57 12
Epileptic Encephalopathy, Early Infantile, 18; Eiee1 57
Encephalopathy, Epileptic, Early Infantile, Type 18 39
Eiee18 72
Eiee1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
delayed psychomotor development apparent in infancy
seizure onset in first months or years of life


HPO:

31
developmental and epileptic encephalopathy 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080413
OMIM® 57 615476
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
UMLS 70 C3809624

Summaries for Developmental and Epileptic Encephalopathy 18

OMIM® : 57 Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (615476) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 18, also known as early infantile epileptic encephalopathy 18, is related to developmental and epileptic encephalopathy 1 and early infantile epileptic encephalopathy, and has symptoms including absence seizures An important gene associated with Developmental and Epileptic Encephalopathy 18 is SZT2 (SZT2 Subunit Of KICSTOR Complex). Related phenotypes are eeg abnormality and ptosis

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has material basis in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 18: A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging.

Related Diseases for Developmental and Epileptic Encephalopathy 18

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 1 11.3
2 early infantile epileptic encephalopathy 9.1 SZT2-AS1 SZT2 HYI

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 18

Human phenotypes related to Developmental and Epileptic Encephalopathy 18:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 HP:0002353
2 ptosis 31 HP:0000508
3 global developmental delay 31 HP:0001263
4 downslanted palpebral fissures 31 HP:0000494
5 highly arched eyebrow 31 HP:0002553
6 high forehead 31 HP:0000348
7 hyporeflexia 31 HP:0001265
8 generalized hypotonia 31 HP:0001290
9 focal-onset seizure 31 HP:0007359
10 epileptic encephalopathy 31 HP:0200134
11 thick corpus callosum 31 HP:0007074
12 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
downslanting palpebral fissures
arched eyebrows
laterally placed eyebrows

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Face:
high forehead

Neurologic Central Nervous System:
absence seizures
hypotonia
generalized seizures
eeg abnormalities
lack of psychomotor development
more

Clinical features from OMIM®:

615476 (Updated 05-Apr-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 18:


absence seizures

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 18

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 18

Genetic Tests for Developmental and Epileptic Encephalopathy 18

Genetic tests related to Developmental and Epileptic Encephalopathy 18:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 18 29 SZT2

Anatomical Context for Developmental and Epileptic Encephalopathy 18

Publications for Developmental and Epileptic Encephalopathy 18

Articles related to Developmental and Epileptic Encephalopathy 18:

(showing 9, show less)
# Title Authors PMID Year
1
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. 57 6
32402703 2020
2
SZT2 mutation in a boy with intellectual disability, seizures and autistic features. 6 57
30359774 2019
3
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder. 6 57
30560016 2018
4
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. 6 57
28556953 2018
5
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. 57 6
23932106 2013
6
Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly. 57
31146092 2019
7
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly. 6
30818181 2019
8
Szt2, a novel gene for seizure threshold in mice. 57
19624305 2009
9
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 61
29961512 2018

Variations for Developmental and Epileptic Encephalopathy 18

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 18:

6 (showing 64, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SZT2 NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter) SNV Pathogenic 66996 rs397515489 GRCh37: 1:43868893-43868893
GRCh38: 1:43403222-43403222
2 SZT2 NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter) SNV Pathogenic 66997 rs397515490 GRCh37: 1:43888824-43888824
GRCh38: 1:43423153-43423153
3 SZT2 NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile) SNV Pathogenic 66998 rs886041034 GRCh37: 1:43886654-43886654
GRCh38: 1:43420983-43420983
4 SZT2 NM_001365999.1(SZT2):c.3871_3887del (p.Asn1291fs) Deletion Pathogenic 997436 GRCh37: 1:43893738-43893754
GRCh38: 1:43428067-43428083
5 SZT2 NM_001365999.1(SZT2):c.5653del (p.Gly1886fs) Deletion Pathogenic 997437 GRCh37: 1:43898708-43898708
GRCh38: 1:43433037-43433037
6 SZT2 NM_001365999.1(SZT2):c.3668dup (p.Ala1224fs) Duplication Pathogenic 997438 GRCh37: 1:43893269-43893270
GRCh38: 1:43427598-43427599
7 SZT2 NM_001365999.1(SZT2):c.2929+1G>A SNV Pathogenic 997439 GRCh37: 1:43891621-43891621
GRCh38: 1:43425950-43425950
8 SZT2 NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) SNV Pathogenic 589892 rs373062274 GRCh37: 1:43907014-43907014
GRCh38: 1:43441343-43441343
9 SZT2 NM_001365999.1(SZT2):c.8333C>G (p.Ser2778Cys) SNV Pathogenic 997441 GRCh37: 1:43908671-43908671
GRCh38: 1:43443000-43443000
10 SZT2 NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr) SNV Pathogenic 496617 rs1553153691 GRCh37: 1:43907360-43907360
GRCh38: 1:43441689-43441689
11 SZT2 NM_001365999.1(SZT2):c.7996T>G (p.Trp2666Gly) SNV Pathogenic 997444 GRCh37: 1:43908134-43908134
GRCh38: 1:43442463-43442463
12 SZT2 , HYI NM_001365999.1(SZT2):c.*944_*947del Deletion Pathogenic 1033339 GRCh37: 1:43917093-43917096
GRCh38: 1:43451422-43451425
13 SZT2 NM_001365999.1(SZT2):c.1626+2T>C SNV Pathogenic 1033340 GRCh37: 1:43886976-43886976
GRCh38: 1:43421305-43421305
14 SZT2 NM_001365999.1(SZT2):c.6262C>T (p.Arg2088Ter) SNV Pathogenic 1033342 GRCh37: 1:43903151-43903151
GRCh38: 1:43437480-43437480
15 SZT2 NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) SNV Pathogenic/Likely pathogenic 429775 rs765848129 GRCh37: 1:43904696-43904696
GRCh38: 1:43439025-43439025
16 SZT2 NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) Deletion Likely pathogenic 436935 rs756942804 GRCh37: 1:43881654-43881655
GRCh38: 1:43415983-43415984
17 SZT2 NM_001365999.1(SZT2):c.498G>T (p.Gln166His) SNV Likely pathogenic 559530 rs1553138869 GRCh37: 1:43870221-43870221
GRCh38: 1:43404550-43404550
18 SZT2 NM_001365999.1(SZT2):c.5396G>A (p.Trp1799Ter) SNV Likely pathogenic 1029531 GRCh37: 1:43898064-43898064
GRCh38: 1:43432393-43432393
19 SZT2-AS1 , SZT2 NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) SNV Likely pathogenic 996846 GRCh37: 1:43913961-43913961
GRCh38: 1:43448290-43448290
20 SZT2 NM_001365999.1(SZT2):c.8315C>T (p.Thr2772Met) SNV Uncertain significance 1033343 GRCh37: 1:43908653-43908653
GRCh38: 1:43442982-43442982
21 SZT2 NM_001365999.1(SZT2):c.9185A>G (p.His3062Arg) SNV Uncertain significance 1033344 GRCh37: 1:43912738-43912738
GRCh38: 1:43447067-43447067
22 SZT2-AS1 , SZT2 NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=) SNV Uncertain significance 588195 rs138585463 GRCh37: 1:43913762-43913762
GRCh38: 1:43448091-43448091
23 SZT2 NM_001365999.1(SZT2):c.10155+5G>C SNV Uncertain significance 1033345 GRCh37: 1:43915847-43915847
GRCh38: 1:43450176-43450176
24 SZT2 NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val) SNV Uncertain significance 588041 rs200635457 GRCh37: 1:43893384-43893384
GRCh38: 1:43427713-43427713
25 SZT2 NM_001365999.1(SZT2):c.3919+16G>A SNV Uncertain significance 1033341 GRCh37: 1:43893805-43893805
GRCh38: 1:43428134-43428134
26 SZT2 NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr) SNV Uncertain significance 651379 rs147201727 GRCh37: 1:43895743-43895743
GRCh38: 1:43430072-43430072
27 SZT2 NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) SNV Uncertain significance 586766 rs138762270 GRCh37: 1:43896743-43896743
GRCh38: 1:43431072-43431072
28 SZT2 NM_001365999.1(SZT2):c.5668C>T (p.Pro1890Ser) SNV Uncertain significance 837036 GRCh37: 1:43898725-43898725
GRCh38: 1:43433054-43433054
29 SZT2 NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn) SNV Uncertain significance 813940 rs201622088 GRCh37: 1:43905659-43905659
GRCh38: 1:43439988-43439988
30 SZT2 NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) Deletion Uncertain significance 372895 rs746200792 GRCh37: 1:43902925-43902927
GRCh38: 1:43437254-43437256
31 SZT2 NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) SNV Uncertain significance 433087 rs143880787 GRCh37: 1:43891311-43891311
GRCh38: 1:43425640-43425640
32 SZT2 NM_001365999.1(SZT2):c.1994G>A (p.Arg665His) SNV Uncertain significance 1013836 GRCh37: 1:43888511-43888511
GRCh38: 1:43422840-43422840
33 SZT2 NM_001365999.1(SZT2):c.2759G>A (p.Gly920Asp) SNV Uncertain significance 661230 rs764539994 GRCh37: 1:43891258-43891258
GRCh38: 1:43425587-43425587
34 SZT2 NM_001365999.1(SZT2):c.3916C>T (p.Arg1306Cys) SNV Uncertain significance 588757 rs760099699 GRCh37: 1:43893786-43893786
GRCh38: 1:43428115-43428115
35 SZT2 NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) SNV Uncertain significance 589554 rs745970630 GRCh37: 1:43896991-43896991
GRCh38: 1:43431320-43431320
36 SZT2 NM_001365999.1(SZT2):c.5779C>T (p.Arg1927Cys) SNV Uncertain significance 955815 GRCh37: 1:43898836-43898836
GRCh38: 1:43433165-43433165
37 SZT2 NM_001365999.1(SZT2):c.6284A>G (p.Tyr2095Cys) SNV Uncertain significance 661164 rs947784174 GRCh37: 1:43903173-43903173
GRCh38: 1:43437502-43437502
38 SZT2 NM_001365999.1(SZT2):c.6317G>A (p.Arg2106Gln) SNV Uncertain significance 641600 rs1016066439 GRCh37: 1:43903292-43903292
GRCh38: 1:43437621-43437621
39 SZT2 NM_001365999.1(SZT2):c.640C>G (p.Gln214Glu) SNV Uncertain significance 1029532 GRCh37: 1:43881640-43881640
GRCh38: 1:43415969-43415969
40 SZT2 NM_001365999.1(SZT2):c.7136G>T (p.Arg2379Leu) SNV Uncertain significance 1029533 GRCh37: 1:43905645-43905645
GRCh38: 1:43439974-43439974
41 SZT2 NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val) SNV Uncertain significance 655294 rs755029775 GRCh37: 1:43906229-43906229
GRCh38: 1:43440558-43440558
42 SZT2 NM_001365999.1(SZT2):c.7916G>T (p.Ser2639Ile) SNV Uncertain significance 1029534 GRCh37: 1:43907981-43907981
GRCh38: 1:43442310-43442310
43 SZT2 NM_001365999.1(SZT2):c.8775G>C (p.Gln2925His) SNV Uncertain significance 654868 rs762236975 GRCh37: 1:43909417-43909417
GRCh38: 1:43443746-43443746
44 SZT2 NM_001365999.1(SZT2):c.9160G>A (p.Val3054Met) SNV Uncertain significance 1030484 GRCh37: 1:43912713-43912713
GRCh38: 1:43447042-43447042
45 SZT2-AS1 , SZT2 NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=) SNV Uncertain significance 1030485 GRCh37: 1:43914005-43914005
GRCh38: 1:43448334-43448334
46 SZT2 NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp) SNV Uncertain significance 411945 rs201767217 GRCh37: 1:43893029-43893029
GRCh38: 1:43427358-43427358
47 SZT2 NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg) SNV Uncertain significance 411937 rs149741610 GRCh37: 1:43894055-43894055
GRCh38: 1:43428384-43428384
48 SZT2 NM_001365999.1(SZT2):c.5906G>A (p.Arg1969Gln) SNV Uncertain significance 411948 rs201099906 GRCh37: 1:43900872-43900872
GRCh38: 1:43435201-43435201
49 SZT2 NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) SNV Uncertain significance 587458 rs775153972 GRCh37: 1:43895716-43895716
GRCh38: 1:43430045-43430045
50 SZT2 NM_001365999.1(SZT2):c.2929+15C>T SNV Uncertain significance 592148 rs1030508390 GRCh37: 1:43891635-43891635
GRCh38: 1:43425964-43425964
51 SZT2 NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly) SNV Uncertain significance 411925 rs754599484 GRCh37: 1:43889985-43889985
GRCh38: 1:43424314-43424314
52 SZT2 NM_001365999.1(SZT2):c.4342C>T (p.Arg1448Cys) SNV Uncertain significance 411923 rs140004653 GRCh37: 1:43895715-43895715
GRCh38: 1:43430044-43430044
53 SZT2 NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met) SNV Uncertain significance 411931 rs201312287 GRCh37: 1:43896737-43896737
GRCh38: 1:43431066-43431066
54 SZT2 NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp) SNV Uncertain significance 870404 GRCh37: 1:43898447-43898447
GRCh38: 1:43432776-43432776
55 SZT2 NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp) SNV Uncertain significance 870405 GRCh37: 1:43881670-43881670
GRCh38: 1:43415999-43415999
56 SZT2 NM_001365999.1(SZT2):c.772+5G>A SNV Uncertain significance 930792 GRCh37: 1:43881777-43881777
GRCh38: 1:43416106-43416106
57 SZT2 NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) SNV Uncertain significance 423419 rs754779853 GRCh37: 1:43911877-43911877
GRCh38: 1:43446206-43446206
58 SZT2 NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp) SNV Uncertain significance 451420 rs906119040 GRCh37: 1:43908001-43908001
GRCh38: 1:43442330-43442330
59 SZT2 NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) SNV Uncertain significance 487580 rs574115531 GRCh37: 1:43888818-43888818
GRCh38: 1:43423147-43423147
60 SZT2 NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) SNV Uncertain significance 652919 rs768015377 GRCh37: 1:43890832-43890832
GRCh38: 1:43425161-43425161
61 SZT2 NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) SNV Benign 241034 rs76675748 GRCh37: 1:43896217-43896217
GRCh38: 1:43430546-43430546
62 EP300 NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) SNV not provided 441039 rs775368605 GRCh37: 22:41548243-41548243
GRCh38: 22:41152239-41152239
63 SZT2 NM_001365999.1(SZT2):c.4288G>A (p.Ala1430Thr) SNV not provided 441040 rs1553149451 GRCh37: 1:43895495-43895495
GRCh38: 1:43429824-43429824
64 SZT2 NM_001365999.1(SZT2):c.5025-2A>G SNV not provided 598948 rs1557569831 GRCh37: 1:43897129-43897129
GRCh38: 1:43431458-43431458

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 18:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SZT2 p.Ser499Ile VAR_078574 rs886041034

Expression for Developmental and Epileptic Encephalopathy 18

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 18.

Pathways for Developmental and Epileptic Encephalopathy 18

GO Terms for Developmental and Epileptic Encephalopathy 18

Molecular functions related to Developmental and Epileptic Encephalopathy 18 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 8.62 SZT2 HYI

Sources for Developmental and Epileptic Encephalopathy 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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