Individual #00271548

ID_report family
Reference PubMed: Stogmann 2013
Remarks 5-generation family, 5 affected sibs (4F, M), unaffected heterozygous carrier parents/relatives
Gender F;M
Consanguinity yes
Country Egypt
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 5
Diseases FAME
Owner name Johan den Dunnen


Phenotypes

epilepsy, myoclonic, familial adult (FAME) (FAME)   Add phenotype for this disease

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Owner     
0000208126 cortical myoclonic tremor and epilepsy - see paper; ..., 5/5 generalized tonic clonic seizure, 5/5 cortical tremor, 4/5 complex partial seizure, 3/5 myoclonic jerks, 3/5 aura, 2/5 neuropsychiatric symptoms, IQ 78-86 Familial, autosomal recessive 21y-39y - - - - Johan den Dunnen



Screenings


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Owner     
0000272702 DNA SEQ - - CNTN2 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Protein level     
1 Both (homozygous) ?/. - VUS g.200633175C>G g.200664047C>G - - DDX59_000007 - PubMed: Stogmann 2013 - - Germline - - - 0 - Johan den Dunnen DDX59 - - - - - - NM_001031725.4:c.844G>C - r.(?) p.(Glu282Gln) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.201379514G>T g.201410386G>T - - TNNI1_000001 - PubMed: Stogmann 2013 - - Germline - - - 0 - Johan den Dunnen TNNI1 - - - - - - NM_003281.3:c.506C>A - r.(?) p.(Ser169Tyr) - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) +/. - pathogenic (recessive) g.205028228del g.205059100del 503_503delG - CNTN2_000005 - PubMed: Stogmann 2013 - - Germline yes - - 0 - Johan den Dunnen CNTN2 - - - - - 6 NM_005076.3:c.504del - r.(?) p.(Trp168Cysfs*163) - - - - - - - - - - - - - - - - - - - -
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