Individual #00153171

ID_report -
Reference PubMed: Abicht 2002
Remarks 2-generation family, unaffected parents/6 siblings
Gender M
Consanguinity -
Country Germany
Population -
Age at death >36y (later than 36 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CMS
Owner name Angela Abicht
Database submission license No license selected
Created by Angela Abicht
Date created 2011-12-29 17:55:05 +01:00 (CET)
Date last edited 2012-03-09 18:26:59 +01:00 (CET)


Phenotypes

myasthenic syndrome, congenital (CMS) (CMS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Owner     
0000125876 ptosis, limited eye movements, mild facial/limb weakness; 36y-marked bilateral ptosis, severe bilateral reduction eye abduction, fatigable weakness (more proximal then distal limb muscles); age onset early childhood syndrome, myasthenic, congenital - Isolated (sporadic) 36y - - myasthenic symptoms no AChR antibodies Angela Abicht



Screenings


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Owner     
0000154034 DNA;RNA RT-PCR;SEQ - - CHRNE 4 Angela Abicht



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

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Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Legacy protein change     

Protein level     
17 Maternal (confirmed) -/. - benign g.4801163C>A g.4897868C>A 1341821G>T - CHRNE_000089 - PubMed: Abicht 2002 - - Germline - - - - - Angela Abicht CHRNE - - - - 12 NM_000080.3:c.*868G>T - r.(?) p.(=) - - - - - - - - - - - - - -
17 Maternal (confirmed) -/. - benign g.4805691G>T g.4902396G>T IVS3+54C>A - CHRNE_000094 - PubMed: Abicht 2002 - - Germline - - - - - Angela Abicht CHRNE - - - - 3i NM_000080.3:c.234+54C>A - r.(?) p.(=) - - - - - - - - - - - - - -
17 Maternal (confirmed) +/. - pathogenic g.4805975_4807264delinsTCTTGGATGCG g.4902680_4903969delinsTCTTGGATGCG - - CHRNE_000081 1.29 Kb deletion promoter-exon 2; fusion transcripts containing 5' GP1BA sequences PubMed: Abicht 2002 - - Germline - - - - - Angela Abicht CHRNE - - - - 1_2 NM_000080.3:c.-906_130delinsCGCATCCAAGA - r.0? p.0? - - - - - - - - - - - - - -
17 Maternal (confirmed) +/. - pathogenic g.4806452C>T g.4903157C>T -154G>A - CHRNE_000080 not in 84 CMS/104 control chromosomes; severely reduced expression PubMed: Abicht 2002 - - Germline - - MspI- - - Angela Abicht CHRNE - - - - 1 NM_000080.3:c.-94G>A - r.(?) p.(=) - - - - - - - - - - - - - -
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