Individual #00219399

ID_report 25801283-FamPatIII4
Reference PubMed: Olivé 2015
Remarks 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives
Gender M
Consanguinity -
Country Spain
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases CMH
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-02-09 18:13:47 +01:00 (CET)
Date last edited 2019-02-09 18:35:37 +01:00 (CET)


Phenotypes

cardiomyopathy, hypertrophic (CMH) (CMH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

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Protein     

Owner     
0000167937 20y-ECG hypertrophic cardiomyopathy; 4th decade slowly progressing weakness proximal muscles four limbs, difficulties on stairs and lifting heavy objects; ... protein aggregate myopathies - Familial, autosomal recessive 60y - 15y dyspnoea upon exertion - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

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Tissue     

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Variants found     

Owner     
0000220471 DNA;RNA RT-PCR;SEQ;SEQ-NG - candidate gene screening and WES TRIM54, TRIM63 11 Johan den Dunnen



Variants

11 entries on 1 page. Showing entries 1 - 11.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Both (homozygous) +/. - likely pathogenic g.26384973G>A g.26058482G>A - - TRIM63_000011 - PubMed: Olivé 2015 - - Germline yes - - - - Johan den Dunnen TRIM63 - - - - - NM_032588.3:c.739C>T - r.0 p.0 - - - - - - - - - - - - - -
2 Maternal (confirmed) +?/. - VUS g.27521582G>A g.27298714G>A - - TRIM54_000005 - PubMed: Olivé 2015 - - Germline no - - - - Johan den Dunnen TRIM54 - - - - - NM_187841.2:c.316G>A - r.316g>a p.Asp106Asn - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.234229468C>T g.233320822C>T Thr125Met - SAG_000028 - PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen SAG - - - - - NM_000541.4:c.374C>T - r.(?) p.(Thr125Met) - - - - - - - - - - - - - -
4 Unknown ?/. - VUS g.155411721G>A g.154490569G>A Arg263Trp - DCHS2_000005 - PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen DCHS2 - - - - - NM_001142552.1:c.787C>T, NM_017639.3:c.-99272C>T - r.(?), r.(=) p.(Arg263Trp), p.(=) - - - - - - - - - - - - - -
8 Unknown ?/. - VUS g.144732488A>T g.143650318A>T Lys149Ile - ZNF623_000001 - PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen ZNF623 - - - - - NM_014789.3:c.446A>T - r.(?) p.(Lys149Ile) - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.118434792C>T g.116675281C>T Val510Met - HSPA12A_000001 - PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen HSPA12A - - - - - NM_025015.2:c.1528G>A - r.(?) p.(Val510Met) - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.122615408A>G g.122130864A>G MLXIP:Met311Val - chr12_004224 NM_014938.4:c.931A>G Variant Error [EREF]: This genomic variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.36455359G>A g.38299393G>A Arg96His - MRPL45_000001 - PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen MRPL45 - - - - - NM_032351.4:c.287G>A - r.(?) p.(Arg96His) - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.15349764C>R - Glu1270Asp - BRD4_000005 - PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen BRD4 - - - - - NM_058243.2:c.3810G>Y - r.(?) p.(Glu1270Asp) - - - - - - - - - - - - - -
22 Unknown ?/. - VUS g.36124810G>Y - Gln389His - APOL5_000001 - PubMed: Olivé 2015 - - Germline - - - - - Johan den Dunnen APOL5 - - - - - NM_030642.1:c.1167G>Y - r.(?) p.(Gln389His) - - - - - - - - - - - - - -
22 Unknown ?/. - VUS g.41303163C>T g.40907159C>T XPNPEP3 Arg276Cys - XPNPEP3_000004 - PubMed: Olivé 2015 - rs118098040 Germline - - - - - Johan den Dunnen XPNPEP3 - - - - - NM_022098.3:c.793-428C>T - r.(=) p.(=) - - - - - - - - - - - - - -
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