ETL7
MCID: EPL150
MIFTS: 20

Epilepsy, Familial Temporal Lobe, 7 (ETL7)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 7

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 7:

Name: Epilepsy, Familial Temporal Lobe, 7 57 75 29 6
Etl7 57 12 75
Epilepsy, Temporal Lobe, Familial, Type 7 40
Familial Temporal Lobe Epilepsy 7 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

32
epilepsy, familial temporal lobe, 7:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616436
Disease Ontology 12 DOID:0060751
MeSH 44 D004833
SNOMED-CT via HPO 69 263681008

Summaries for Epilepsy, Familial Temporal Lobe, 7

OMIM : 57 Familial temporal lobe epilepsy-7 is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by Dazzo et al., 2015). For a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see 600512. (616436)

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 7, also known as etl7, is related to lissencephaly 2. An important gene associated with Epilepsy, Familial Temporal Lobe, 7 is RELN (Reelin). Affiliated tissues include temporal lobe, and related phenotype is focal sensory auditory seizure.

Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.

UniProtKB/Swiss-Prot : 75 Epilepsy, familial temporal lobe, 7: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.

Related Diseases for Epilepsy, Familial Temporal Lobe, 7

Diseases in the Temporal Lobe Epilepsy family:

Epilepsy, Familial Temporal Lobe, 1 Epilepsy, Familial Temporal Lobe, 2
Epilepsy, Familial Temporal Lobe, 3 Epilepsy, Familial Temporal Lobe, 4
Epilepsy, Familial Temporal Lobe, 5 Epilepsy, Familial Temporal Lobe, 6
Epilepsy, Familial Temporal Lobe, 7 Epilepsy, Familial Temporal Lobe, 8

Diseases related to Epilepsy, Familial Temporal Lobe, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lissencephaly 2 9.4 LOC101927870 LOC105375435 RELN

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
epilepsy, focal
temporal lobe origin
auditory aura
aphasic symptoms
absence of structural defects


Clinical features from OMIM:

616436

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 7:

32
# Description HPO Frequency HPO Source Accession
1 focal sensory auditory seizure 32 HP:0011158

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 7

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 7

Genetic Tests for Epilepsy, Familial Temporal Lobe, 7

Genetic tests related to Epilepsy, Familial Temporal Lobe, 7:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Temporal Lobe, 7 29 RELN

Anatomical Context for Epilepsy, Familial Temporal Lobe, 7

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 7:

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 7

Variations for Epilepsy, Familial Temporal Lobe, 7

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 7:

75
# Symbol AA change Variation ID SNP ID
1 RELN p.Pro672Leu VAR_073862 rs201044262
2 RELN p.Tyr723Cys VAR_073863 rs768119894
3 RELN p.Asp763Gly VAR_073864 rs794727998
4 RELN p.His798Asn VAR_073865 rs794727996
5 RELN p.Pro844Leu VAR_073866 rs797045000
6 RELN p.Gly2783Cys VAR_073867 rs794727997
7 RELN p.Glu3176Lys VAR_073868 rs794727999

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 7:

6 (show top 50) (show all 544)
# Gene Variation Type Significance SNP ID Assembly Location
1 RELN NM_005045.3(RELN): c.1290-3dupT duplication Benign/Likely benign rs146986040 GRCh37 Chromosome 7, 103301977: 103301977
2 RELN NM_005045.3(RELN): c.1290-3dupT duplication Benign/Likely benign rs146986040 GRCh38 Chromosome 7, 103661530: 103661530
3 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh37 Chromosome 7, 103629665: 103629665
4 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh38 Chromosome 7, 103989218: 103989218
5 RELN NM_005045.3(RELN): c.1596G> A (p.Gln532=) single nucleotide variant Benign/Likely benign rs41276154 GRCh37 Chromosome 7, 103293165: 103293165
6 RELN NM_005045.3(RELN): c.1596G> A (p.Gln532=) single nucleotide variant Benign/Likely benign rs41276154 GRCh38 Chromosome 7, 103652718: 103652718
7 RELN NM_005045.3(RELN): c.1799C> T (p.Ser600Phe) single nucleotide variant Benign rs78008536 GRCh37 Chromosome 7, 103292201: 103292201
8 RELN NM_005045.3(RELN): c.1799C> T (p.Ser600Phe) single nucleotide variant Benign rs78008536 GRCh38 Chromosome 7, 103651754: 103651754
9 RELN NM_005045.3(RELN): c.2376T> C (p.Gly792=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124191 GRCh37 Chromosome 7, 103275961: 103275961
10 RELN NM_005045.3(RELN): c.2376T> C (p.Gly792=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124191 GRCh38 Chromosome 7, 103635514: 103635514
11 RELN NM_005045.3(RELN): c.26A> C (p.Gln9Pro) single nucleotide variant Benign/Likely benign rs115165703 GRCh37 Chromosome 7, 103629778: 103629778
12 RELN NM_005045.3(RELN): c.26A> C (p.Gln9Pro) single nucleotide variant Benign/Likely benign rs115165703 GRCh38 Chromosome 7, 103989331: 103989331
13 RELN NM_005045.3(RELN): c.3651C> G (p.Ile1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs56342240 GRCh37 Chromosome 7, 103234828: 103234828
14 RELN NM_005045.3(RELN): c.3651C> G (p.Ile1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs56342240 GRCh38 Chromosome 7, 103594381: 103594381
15 RELN NM_005045.3(RELN): c.3839G> A (p.Gly1280Glu) single nucleotide variant Benign/Likely benign rs55689103 GRCh37 Chromosome 7, 103234202: 103234202
16 RELN NM_005045.3(RELN): c.3839G> A (p.Gly1280Glu) single nucleotide variant Benign/Likely benign rs55689103 GRCh38 Chromosome 7, 103593755: 103593755
17 RELN NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser) single nucleotide variant Uncertain significance rs115577014 GRCh37 Chromosome 7, 103214713: 103214713
18 RELN NM_005045.3(RELN): c.4337A> G (p.Asn1446Ser) single nucleotide variant Uncertain significance rs115577014 GRCh38 Chromosome 7, 103574266: 103574266
19 RELN NM_005045.3(RELN): c.474-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55693709 GRCh37 Chromosome 7, 103417081: 103417081
20 RELN NM_005045.3(RELN): c.474-7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55693709 GRCh38 Chromosome 7, 103776634: 103776634
21 RELN NM_005045.3(RELN): c.5643G> A (p.Leu1881=) single nucleotide variant Conflicting interpretations of pathogenicity rs141387255 GRCh37 Chromosome 7, 103197578: 103197578
22 RELN NM_005045.3(RELN): c.5643G> A (p.Leu1881=) single nucleotide variant Conflicting interpretations of pathogenicity rs141387255 GRCh38 Chromosome 7, 103557131: 103557131
23 RELN NM_005045.3(RELN): c.5711C> T (p.Thr1904Met) single nucleotide variant Uncertain significance rs114190729 GRCh37 Chromosome 7, 103197510: 103197510
24 RELN NM_005045.3(RELN): c.5711C> T (p.Thr1904Met) single nucleotide variant Uncertain significance rs114190729 GRCh38 Chromosome 7, 103557063: 103557063
25 RELN NM_005045.3(RELN): c.6084C> T (p.Gly2028=) single nucleotide variant Conflicting interpretations of pathogenicity rs114019779 GRCh37 Chromosome 7, 103191732: 103191732
26 RELN NM_005045.3(RELN): c.6084C> T (p.Gly2028=) single nucleotide variant Conflicting interpretations of pathogenicity rs114019779 GRCh38 Chromosome 7, 103551285: 103551285
27 RELN NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln) single nucleotide variant Uncertain significance rs200010849 GRCh37 Chromosome 7, 103183202: 103183202
28 RELN NM_005045.3(RELN): c.6647G> A (p.Arg2216Gln) single nucleotide variant Uncertain significance rs200010849 GRCh38 Chromosome 7, 103542755: 103542755
29 RELN NM_005045.3(RELN): c.7110T> C (p.Val2370=) single nucleotide variant Benign/Likely benign rs362746 GRCh37 Chromosome 7, 103179595: 103179595
30 RELN NM_005045.3(RELN): c.7110T> C (p.Val2370=) single nucleotide variant Benign/Likely benign rs362746 GRCh38 Chromosome 7, 103539148: 103539148
31 RELN NM_005045.3(RELN): c.7438G> A (p.Gly2480Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150236371 GRCh37 Chromosome 7, 103163890: 103163890
32 RELN NM_005045.3(RELN): c.7438G> A (p.Gly2480Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150236371 GRCh38 Chromosome 7, 103523443: 103523443
33 RELN NM_005045.3(RELN): c.8508C> T (p.Phe2836=) single nucleotide variant Benign/Likely benign rs2229862 GRCh37 Chromosome 7, 103141351: 103141351
34 RELN NM_005045.3(RELN): c.8508C> T (p.Phe2836=) single nucleotide variant Benign/Likely benign rs2229862 GRCh38 Chromosome 7, 103500904: 103500904
35 RELN NM_005045.3(RELN): c.9340A> G (p.Ile3114Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149613347 GRCh37 Chromosome 7, 103136199: 103136199
36 RELN NM_005045.3(RELN): c.9340A> G (p.Ile3114Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149613347 GRCh38 Chromosome 7, 103495752: 103495752
37 RELN NM_005045.3(RELN): c.9370-13_9370-8delATGTTT deletion Benign rs141397961 GRCh37 Chromosome 7, 103132481: 103132486
38 RELN NM_005045.3(RELN): c.9370-13_9370-8delATGTTT deletion Benign rs141397961 GRCh38 Chromosome 7, 103492034: 103492039
39 RELN NM_005045.3(RELN): c.9825C> T (p.Ser3275=) single nucleotide variant Conflicting interpretations of pathogenicity rs149713137 GRCh37 Chromosome 7, 103126802: 103126802
40 RELN NM_005045.3(RELN): c.9825C> T (p.Ser3275=) single nucleotide variant Conflicting interpretations of pathogenicity rs149713137 GRCh38 Chromosome 7, 103486355: 103486355
41 RELN NM_005045.3(RELN): c.1377G> A (p.Arg459=) single nucleotide variant Benign/Likely benign rs73712207 GRCh37 Chromosome 7, 103301887: 103301887
42 RELN NM_005045.3(RELN): c.1377G> A (p.Arg459=) single nucleotide variant Benign/Likely benign rs73712207 GRCh38 Chromosome 7, 103661440: 103661440
43 RELN NM_005045.3(RELN): c.1888A> C (p.Ser630Arg) single nucleotide variant Benign/Likely benign rs115734214 GRCh37 Chromosome 7, 103292112: 103292112
44 RELN NM_005045.3(RELN): c.1888A> C (p.Ser630Arg) single nucleotide variant Benign/Likely benign rs115734214 GRCh38 Chromosome 7, 103651665: 103651665
45 RELN NM_005045.3(RELN): c.2434C> G (p.His812Asp) single nucleotide variant Uncertain significance rs3025968 GRCh37 Chromosome 7, 103275903: 103275903
46 RELN NM_005045.3(RELN): c.2434C> G (p.His812Asp) single nucleotide variant Uncertain significance rs3025968 GRCh38 Chromosome 7, 103635456: 103635456
47 RELN NM_005045.3(RELN): c.2932A> G (p.Thr978Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs3025962 GRCh37 Chromosome 7, 103251218: 103251218
48 RELN NM_005045.3(RELN): c.2932A> G (p.Thr978Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs3025962 GRCh38 Chromosome 7, 103610771: 103610771
49 RELN NM_005045.3(RELN): c.416C> G (p.Thr139Ser) single nucleotide variant Benign/Likely benign rs79471015 GRCh37 Chromosome 7, 103474041: 103474041
50 RELN NM_005045.3(RELN): c.416C> G (p.Thr139Ser) single nucleotide variant Benign/Likely benign rs79471015 GRCh38 Chromosome 7, 103833594: 103833594

Expression for Epilepsy, Familial Temporal Lobe, 7

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Pathways for Epilepsy, Familial Temporal Lobe, 7

GO Terms for Epilepsy, Familial Temporal Lobe, 7

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