ECA5
MCID: EPL136
MIFTS: 14

Epilepsy, Childhood Absence 5 (ECA5)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Childhood Absence 5

MalaCards integrated aliases for Epilepsy, Childhood Absence 5:

Name: Epilepsy, Childhood Absence 5 57 75 29 6
Epilepsy, Childhood Absence, Susceptibility to, 5 57 13
Eca5 57 75
Epilepsy, Childhood Absence, Type 5 40

Characteristics:

HPO:

32
epilepsy, childhood absence 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612269
MedGen 42 C2677087
MeSH 44 D004832

Summaries for Epilepsy, Childhood Absence 5

UniProtKB/Swiss-Prot : 75 Epilepsy, childhood absence 5: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.

MalaCards based summary : Epilepsy, Childhood Absence 5, is also known as epilepsy, childhood absence, susceptibility to, 5. An important gene associated with Epilepsy, Childhood Absence 5 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit). Related phenotype is absence seizures.

Description from OMIM: 612269

Related Diseases for Epilepsy, Childhood Absence 5

Symptoms & Phenotypes for Epilepsy, Childhood Absence 5

Clinical features from OMIM:

612269

Human phenotypes related to Epilepsy, Childhood Absence 5:

32
# Description HPO Frequency HPO Source Accession
1 absence seizures 32 HP:0002121

Drugs & Therapeutics for Epilepsy, Childhood Absence 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Childhood Absence 5

Genetic Tests for Epilepsy, Childhood Absence 5

Genetic tests related to Epilepsy, Childhood Absence 5:

# Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 5 29 GABRB3

Anatomical Context for Epilepsy, Childhood Absence 5

Publications for Epilepsy, Childhood Absence 5

Variations for Epilepsy, Childhood Absence 5

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence 5:

75
# Symbol AA change Variation ID SNP ID
1 GABRB3 p.Gly32Arg VAR_047957 rs71651682

ClinVar genetic disease variations for Epilepsy, Childhood Absence 5:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRB3 NM_000814.5(GABRB3): c.650G> A (p.Arg217His) single nucleotide variant Uncertain significance rs121913125 GRCh37 Chromosome 15, 26825498: 26825498
2 GABRB3 NM_000814.5(GABRB3): c.650G> A (p.Arg217His) single nucleotide variant Uncertain significance rs121913125 GRCh38 Chromosome 15, 26580351: 26580351
3 GABRB3 NM_021912.4(GABRB3): c.31C> T (p.Pro11Ser) single nucleotide variant risk factor rs25409 GRCh37 Chromosome 15, 27018841: 27018841
4 GABRB3 NM_021912.4(GABRB3): c.31C> T (p.Pro11Ser) single nucleotide variant risk factor rs25409 GRCh38 Chromosome 15, 26773694: 26773694
5 GABRB3 NM_000814.5(GABRB3): c.-719C> T single nucleotide variant Uncertain significance rs121913126 GRCh37 Chromosome 15, 27018828: 27018828
6 GABRB3 NM_000814.5(GABRB3): c.-719C> T single nucleotide variant Uncertain significance rs121913126 GRCh38 Chromosome 15, 26773681: 26773681
7 GABRB3 NM_021912.4(GABRB3): c.94G> A (p.Gly32Arg) single nucleotide variant risk factor rs71651682 GRCh37 Chromosome 15, 27017906: 27017906
8 GABRB3 NM_021912.4(GABRB3): c.94G> A (p.Gly32Arg) single nucleotide variant risk factor rs71651682 GRCh38 Chromosome 15, 26772759: 26772759
9 GABRB3 NM_000814.5(GABRB3): c.695G> C (p.Arg232Pro) single nucleotide variant Likely pathogenic rs797045045 GRCh37 Chromosome 15, 26812868: 26812868
10 GABRB3 NM_000814.5(GABRB3): c.695G> C (p.Arg232Pro) single nucleotide variant Likely pathogenic rs797045045 GRCh38 Chromosome 15, 26567721: 26567721
11 GABRB3 NM_000814.5(GABRB3): c.-114_*4247del deletion Uncertain significance GRCh38 Chromosome 15, 26543546: 26773076
12 GABRB3 NM_000814.5(GABRB3): c.-114_*4247del deletion Uncertain significance GRCh37 Chromosome 15, 26788693: 27018223
13 GABRB3 NM_000814.5(GABRB3): c.1081-10G> A single nucleotide variant Likely benign rs200137318 GRCh37 Chromosome 15, 26793291: 26793291
14 GABRB3 NM_000814.5(GABRB3): c.1081-10G> A single nucleotide variant Likely benign rs200137318 GRCh38 Chromosome 15, 26548144: 26548144
15 GABRB3 NM_000814.5(GABRB3): c.1005C> T (p.Gly335=) single nucleotide variant Benign rs74907974 GRCh37 Chromosome 15, 26806154: 26806154
16 GABRB3 NM_000814.5(GABRB3): c.1005C> T (p.Gly335=) single nucleotide variant Benign rs74907974 GRCh38 Chromosome 15, 26561007: 26561007
17 GABRB3 NM_000814.5(GABRB3): c.783G> A (p.Ser261=) single nucleotide variant Benign rs76812964 GRCh37 Chromosome 15, 26812780: 26812780
18 GABRB3 NM_000814.5(GABRB3): c.783G> A (p.Ser261=) single nucleotide variant Benign rs76812964 GRCh38 Chromosome 15, 26567633: 26567633
19 GABRB3 NM_000814.5(GABRB3): c.603C> T (p.Thr201=) single nucleotide variant Benign rs75965657 GRCh38 Chromosome 15, 26580398: 26580398
20 GABRB3 NM_000814.5(GABRB3): c.603C> T (p.Thr201=) single nucleotide variant Benign rs75965657 GRCh37 Chromosome 15, 26825545: 26825545
21 GABRB3 NM_000814.5(GABRB3): c.380A> G (p.Lys127Arg) single nucleotide variant Uncertain significance rs1057519201 GRCh37 Chromosome 15, 26866542: 26866542
22 GABRB3 NM_000814.5(GABRB3): c.380A> G (p.Lys127Arg) single nucleotide variant Uncertain significance rs1057519201 GRCh38 Chromosome 15, 26621395: 26621395
23 GABRB3 NM_000814.5(GABRB3): c.1005C> G (p.Gly335=) single nucleotide variant Likely benign rs74907974 GRCh37 Chromosome 15, 26806154: 26806154
24 GABRB3 NM_000814.5(GABRB3): c.1005C> G (p.Gly335=) single nucleotide variant Likely benign rs74907974 GRCh38 Chromosome 15, 26561007: 26561007
25 GABRB3 NM_000814.5(GABRB3): c.1293G> A (p.Arg431=) single nucleotide variant Conflicting interpretations of pathogenicity rs75914945 GRCh37 Chromosome 15, 26793069: 26793069
26 GABRB3 NM_000814.5(GABRB3): c.1293G> A (p.Arg431=) single nucleotide variant Conflicting interpretations of pathogenicity rs75914945 GRCh38 Chromosome 15, 26547922: 26547922
27 GABRB3 NM_000814.5(GABRB3): c.183C> G (p.Val61=) single nucleotide variant Conflicting interpretations of pathogenicity rs778097525 GRCh37 Chromosome 15, 27017606: 27017606
28 GABRB3 NM_000814.5(GABRB3): c.183C> G (p.Val61=) single nucleotide variant Conflicting interpretations of pathogenicity rs778097525 GRCh38 Chromosome 15, 26772459: 26772459
29 GABRB3 NM_000814.5(GABRB3): c.1110A> G (p.Thr370=) single nucleotide variant Likely benign rs200523834 GRCh37 Chromosome 15, 26793252: 26793252
30 GABRB3 NM_000814.5(GABRB3): c.1110A> G (p.Thr370=) single nucleotide variant Likely benign rs200523834 GRCh38 Chromosome 15, 26548105: 26548105
31 GABRB3 NM_000814.5(GABRB3): c.695G> A (p.Arg232Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045045 GRCh37 Chromosome 15, 26812868: 26812868
32 GABRB3 NM_000814.5(GABRB3): c.695G> A (p.Arg232Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045045 GRCh38 Chromosome 15, 26567721: 26567721
33 GABRB3 NM_000814.5(GABRB3): c.504C> A (p.Tyr168Ter) single nucleotide variant Uncertain significance rs1060502665 GRCh38 Chromosome 15, 26583372: 26583372
34 GABRB3 NM_000814.5(GABRB3): c.504C> A (p.Tyr168Ter) single nucleotide variant Uncertain significance rs1060502665 GRCh37 Chromosome 15, 26828519: 26828519
35 GABRB3 NM_000814.5(GABRB3): c.217G> C (p.Asp73His) single nucleotide variant Uncertain significance rs768859258 GRCh38 Chromosome 15, 26772425: 26772425
36 GABRB3 NM_000814.5(GABRB3): c.217G> C (p.Asp73His) single nucleotide variant Uncertain significance rs768859258 GRCh37 Chromosome 15, 27017572: 27017572
37 GABRB3 NM_000814.5(GABRB3): c.-742G> A single nucleotide variant Likely benign rs1060504683 GRCh38 Chromosome 15, 26773704: 26773704
38 GABRB3 NM_000814.5(GABRB3): c.-742G> A single nucleotide variant Likely benign rs1060504683 GRCh37 Chromosome 15, 27018851: 27018851
39 GABRB3 NM_000814.5(GABRB3): c.683-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs759453899 GRCh38 Chromosome 15, 26567740: 26567740
40 GABRB3 NM_000814.5(GABRB3): c.683-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs759453899 GRCh37 Chromosome 15, 26812887: 26812887
41 GABRB3 NM_000814.5(GABRB3): c.1269C> G (p.His423Gln) single nucleotide variant Likely benign rs76962261 GRCh37 Chromosome 15, 26793093: 26793093
42 GABRB3 NM_000814.5(GABRB3): c.1269C> G (p.His423Gln) single nucleotide variant Likely benign rs76962261 GRCh38 Chromosome 15, 26547946: 26547946
43 GABRB3 NM_000814.5(GABRB3): c.487A> G (p.Met163Val) single nucleotide variant Uncertain significance rs1060502666 GRCh37 Chromosome 15, 26828536: 26828536
44 GABRB3 NM_000814.5(GABRB3): c.487A> G (p.Met163Val) single nucleotide variant Uncertain significance rs1060502666 GRCh38 Chromosome 15, 26583389: 26583389
45 GABRB3 NM_000814.5(GABRB3): c.766C> G (p.Leu256Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 26812797: 26812797
46 GABRB3 NM_000814.5(GABRB3): c.766C> G (p.Leu256Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 26567650: 26567650
47 GABRB3 NM_000814.5(GABRB3): c.1078C> T (p.Arg360Trp) single nucleotide variant Uncertain significance rs771568810 GRCh38 Chromosome 15, 26560934: 26560934
48 GABRB3 NM_000814.5(GABRB3): c.1078C> T (p.Arg360Trp) single nucleotide variant Uncertain significance rs771568810 GRCh37 Chromosome 15, 26806081: 26806081
49 GABRB3 NC_000015.10: g.(?_26547773)_(26775295_?)del deletion Uncertain significance GRCh38 Chromosome 15, 26547773: 26775295
50 GABRB3 NC_000015.10: g.(?_26547773)_(26775295_?)dup duplication Uncertain significance GRCh38 Chromosome 15, 26547773: 26775295

Expression for Epilepsy, Childhood Absence 5

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Pathways for Epilepsy, Childhood Absence 5

GO Terms for Epilepsy, Childhood Absence 5

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