Individual #00079372

ID_report -
Reference PubMed: Hermanns 2008, Journal: Hermanns 2008
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister
Gender M
Consanguinity no
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Spondyloepiphyseal dysplasia with congenital joint dislocations
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Spondyloepiphyseal dysplasia with congenital joint dislocations (-)   Add phenotype for this disease

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Owner     
0000059092 at birth joint dislocations, short stature; breech presentation, post natal short stature (5y 90 cm (<3rd)); elbow joint subluxation or limited extension, no hipdysplasia/dislocation, knee luxation or genu recurvatum, club feet - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


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Owner     
0000079445 DNA SEQ - - CHST3 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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AscendingDNA change (genomic) (hg19)     

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10 Paternal (inferred) +/. - pathogenic g.73766929_73766930inv g.72007171_72007172inv IVS2-1G>C and 141G>C - CHST3_000002 - PubMed: Hermanns 2008, Journal: Hermanns 2008 - - Germline yes - - 0 - Johan den Dunnen CHST3 - - - - - 2i_3 NM_004273.4:c.141-1_141inv - r.spl p.? - - - - - - - - - - - - - - - - - - - -
10 Maternal (confirmed) +/. - pathogenic g.73767406_73767407delinsCA g.72007648_72007649delinsCA 617-618TC>CA (F203X) - CHST3_000001 - PubMed: Hermanns 2008, Journal: Hermanns 2008 - - Germline yes - - 0 - Johan den Dunnen CHST3 - - - - - 3 NM_004273.4:c.617_618delinsCA - r.(?) p.(Phe206Ser) - - - - - - - - - - - - - - - - - - - -
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