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 58 76 30 6
Etl7 58 12 76
Epilepsy, Temporal Lobe, Familial, Type 7 41
Familial Temporal Lobe Epilepsy 7 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

33
epilepsy, familial temporal lobe, 7:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060751
OMIM 58 616436
MeSH 45 D004833
SNOMED-CT via HPO 70 263681008

Summaries for Epilepsy, Familial Temporal Lobe, 7

OMIM : 58 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 : 76 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 9.1 LOC101927870 LOC105375435 RELN

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 7

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

33
# Description HPO Frequency HPO Source Accession
1 focal sensory auditory seizure 33 HP:0011158

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
epilepsy, focal
temporal lobe origin
auditory aura
aphasic symptoms
absence of structural defects

Clinical features from OMIM:

616436

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 30 RELN

Anatomical Context for Epilepsy, Familial Temporal Lobe, 7

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

42
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:

76
# 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.5923G> A (p.Gly1975Ser) single nucleotide variant Benign/Likely benign rs114807343 GRCh37 Chromosome 7, 103194153: 103194153
2 RELN NM_005045.3(RELN): c.5923G> A (p.Gly1975Ser) single nucleotide variant Benign/Likely benign rs114807343 GRCh38 Chromosome 7, 103553706: 103553706
3 RELN NM_005045.3(RELN): c.10016T> C (p.Met3339Thr) single nucleotide variant Uncertain significance rs150638029 GRCh37 Chromosome 7, 103124265: 103124265
4 RELN NM_005045.3(RELN): c.10016T> C (p.Met3339Thr) single nucleotide variant Uncertain significance rs150638029 GRCh38 Chromosome 7, 103483818: 103483818
5 RELN NM_005045.3(RELN): c.6193G> A (p.Val2065Ile) single nucleotide variant Uncertain significance rs201627577 GRCh37 Chromosome 7, 103191623: 103191623
6 RELN NM_005045.3(RELN): c.6193G> A (p.Val2065Ile) single nucleotide variant Uncertain significance rs201627577 GRCh38 Chromosome 7, 103551176: 103551176
7 RELN NM_005045.3(RELN): c.4408G> A (p.Val1470Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143213152 GRCh37 Chromosome 7, 103214642: 103214642
8 RELN NM_005045.3(RELN): c.4408G> A (p.Val1470Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143213152 GRCh38 Chromosome 7, 103574195: 103574195
9 RELN NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn) single nucleotide variant Benign rs148509350 GRCh37 Chromosome 7, 103138273: 103138273
10 RELN NM_005045.3(RELN): c.8944G> A (p.Asp2982Asn) single nucleotide variant Benign rs148509350 GRCh38 Chromosome 7, 103497826: 103497826
11 RELN NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41275239 GRCh37 Chromosome 7, 103197603: 103197603
12 RELN NM_005045.3(RELN): c.5618C> T (p.Thr1873Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41275239 GRCh38 Chromosome 7, 103557156: 103557156
13 RELN NM_005045.3(RELN): c.8811G> A (p.Ala2937=) single nucleotide variant Benign/Likely benign rs144728023 GRCh37 Chromosome 7, 103138556: 103138556
14 RELN NM_005045.3(RELN): c.8811G> A (p.Ala2937=) single nucleotide variant Benign/Likely benign rs144728023 GRCh38 Chromosome 7, 103498109: 103498109
15 RELN NM_005045.3(RELN): c.5274G> T (p.Ala1758=) single nucleotide variant Conflicting interpretations of pathogenicity rs139102992 GRCh37 Chromosome 7, 103202337: 103202337
16 RELN NM_005045.3(RELN): c.5274G> T (p.Ala1758=) single nucleotide variant Conflicting interpretations of pathogenicity rs139102992 GRCh38 Chromosome 7, 103561890: 103561890
17 RELN NM_005045.3(RELN): c.77C> T (p.Ala26Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144557847 GRCh37 Chromosome 7, 103629727: 103629727
18 RELN NM_005045.3(RELN): c.77C> T (p.Ala26Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144557847 GRCh38 Chromosome 7, 103989280: 103989280
19 RELN NM_005045.3(RELN): c.906C> T (p.Ala302=) single nucleotide variant Benign/Likely benign rs114494558 GRCh37 Chromosome 7, 103338537: 103338537
20 RELN NM_005045.3(RELN): c.906C> T (p.Ala302=) single nucleotide variant Benign/Likely benign rs114494558 GRCh38 Chromosome 7, 103698090: 103698090
21 RELN NM_005045.3(RELN): c.1442-8T> C single nucleotide variant Benign/Likely benign rs181761096 GRCh37 Chromosome 7, 103294660: 103294660
22 RELN NM_005045.3(RELN): c.1442-8T> C single nucleotide variant Benign/Likely benign rs181761096 GRCh38 Chromosome 7, 103654213: 103654213
23 RELN NM_005045.3(RELN): c.1817C> T (p.Thr606Ile) single nucleotide variant Uncertain significance rs540111252 GRCh37 Chromosome 7, 103292183: 103292183
24 RELN NM_005045.3(RELN): c.1817C> T (p.Thr606Ile) single nucleotide variant Uncertain significance rs540111252 GRCh38 Chromosome 7, 103651736: 103651736
25 RELN NM_005045.3(RELN): c.2016G> A (p.Pro672=) single nucleotide variant Conflicting interpretations of pathogenicity rs146749232 GRCh37 Chromosome 7, 103281043: 103281043
26 RELN NM_005045.3(RELN): c.2016G> A (p.Pro672=) single nucleotide variant Conflicting interpretations of pathogenicity rs146749232 GRCh38 Chromosome 7, 103640596: 103640596
27 RELN NM_005045.3(RELN): c.2754A> G (p.Gln918=) single nucleotide variant Conflicting interpretations of pathogenicity rs114620008 GRCh37 Chromosome 7, 103252199: 103252199
28 RELN NM_005045.3(RELN): c.2754A> G (p.Gln918=) single nucleotide variant Conflicting interpretations of pathogenicity rs114620008 GRCh38 Chromosome 7, 103611752: 103611752
29 RELN NM_005045.3(RELN): c.3123C> T (p.Gly1041=) single nucleotide variant Conflicting interpretations of pathogenicity rs41276148 GRCh37 Chromosome 7, 103244816: 103244816
30 RELN NM_005045.3(RELN): c.3123C> T (p.Gly1041=) single nucleotide variant Conflicting interpretations of pathogenicity rs41276148 GRCh38 Chromosome 7, 103604369: 103604369
31 RELN NM_005045.3(RELN): c.5200C> G (p.Leu1734Val) single nucleotide variant Conflicting interpretations of pathogenicity rs362800 GRCh37 Chromosome 7, 103205735: 103205735
32 RELN NM_005045.3(RELN): c.5200C> G (p.Leu1734Val) single nucleotide variant Conflicting interpretations of pathogenicity rs362800 GRCh38 Chromosome 7, 103565288: 103565288
33 RELN NM_005045.3(RELN): c.5344C> T (p.Arg1782Cys) single nucleotide variant Uncertain significance rs138576725 GRCh37 Chromosome 7, 103202267: 103202267
34 RELN NM_005045.3(RELN): c.5344C> T (p.Arg1782Cys) single nucleotide variant Uncertain significance rs138576725 GRCh38 Chromosome 7, 103561820: 103561820
35 RELN NM_005045.3(RELN): c.6141C> T (p.Phe2047=) single nucleotide variant Conflicting interpretations of pathogenicity rs79161241 GRCh37 Chromosome 7, 103191675: 103191675
36 RELN NM_005045.3(RELN): c.6141C> T (p.Phe2047=) single nucleotide variant Conflicting interpretations of pathogenicity rs79161241 GRCh38 Chromosome 7, 103551228: 103551228
37 RELN NM_005045.3(RELN): c.6278A> C (p.His2093Pro) single nucleotide variant Uncertain significance rs149152189 GRCh37 Chromosome 7, 103191538: 103191538
38 RELN NM_005045.3(RELN): c.6278A> C (p.His2093Pro) single nucleotide variant Uncertain significance rs149152189 GRCh38 Chromosome 7, 103551091: 103551091
39 RELN NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys) single nucleotide variant Uncertain significance rs146877597 GRCh37 Chromosome 7, 103185574: 103185574
40 RELN NM_005045.3(RELN): c.6520G> A (p.Glu2174Lys) single nucleotide variant Uncertain significance rs146877597 GRCh38 Chromosome 7, 103545127: 103545127
41 RELN NM_005045.3(RELN): c.6553A> T (p.Met2185Leu) single nucleotide variant Likely benign rs114686696 GRCh37 Chromosome 7, 103183296: 103183296
42 RELN NM_005045.3(RELN): c.6553A> T (p.Met2185Leu) single nucleotide variant Likely benign rs114686696 GRCh38 Chromosome 7, 103542849: 103542849
43 RELN NM_005045.3(RELN): c.8863C> T (p.Arg2955Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs114501042 GRCh37 Chromosome 7, 103138354: 103138354
44 RELN NM_005045.3(RELN): c.8863C> T (p.Arg2955Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs114501042 GRCh38 Chromosome 7, 103497907: 103497907
45 RELN NM_005045.3(RELN): c.9321C> T (p.Leu3107=) single nucleotide variant Benign rs150387973 GRCh37 Chromosome 7, 103136218: 103136218
46 RELN NM_005045.3(RELN): c.9321C> T (p.Leu3107=) single nucleotide variant Benign rs150387973 GRCh38 Chromosome 7, 103495771: 103495771
47 RELN NM_005045.3(RELN): c.9298_9300delAAG (p.Lys3100del) deletion Uncertain significance rs762015967 GRCh37 Chromosome 7, 103136239: 103136241
48 RELN NM_005045.3(RELN): c.9298_9300delAAG (p.Lys3100del) deletion Uncertain significance rs762015967 GRCh38 Chromosome 7, 103495792: 103495794
49 RELN NM_005045.3(RELN): c.9414C> T (p.Ser3138=) single nucleotide variant Conflicting interpretations of pathogenicity rs375427974 GRCh37 Chromosome 7, 103132429: 103132429
50 RELN NM_005045.3(RELN): c.9414C> T (p.Ser3138=) single nucleotide variant Conflicting interpretations of pathogenicity rs375427974 GRCh38 Chromosome 7, 103491982: 103491982

Expression for Epilepsy, Familial Temporal Lobe, 7

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GO Terms for Epilepsy, Familial Temporal Lobe, 7

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