Individual #00228665

ID_report son
Reference PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018
Remarks -
Gender M
Consanguinity -
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel ID 00155716
Panel size 1
Diseases DPDD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dihydropyrimidine dehydrogenase deficiency (DPDD) (DPDD)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000172603 see paper; ..., born with apparent cortical blindness, subsequently exhibited severe developmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability - DPDD Familial, autosomal recessive 18y - - - - - Johan den Dunnen



Screenings


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Owner     
0000229755 DNA;RNA RT-PCR;SEQ - - DPYD 20 Johan den Dunnen



Variants

20 entries on 1 page. Showing entries 1 - 20.
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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Legacy protein change     

Protein level     
1 Maternal (confirmed) +/. - pathogenic (recessive) g.[97997390_98113120inv;97997386_97997389del] - g.[98113121_97997390inv;97997386_97997389del] - DPYD_000030 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Johan den Dunnen DPYD - - - - - 8i_12i NM_000110.3:c.[850+31531_1525-15893inv;1525-15892_1525-15889del] - r.spl p.? - - - - - - - - - - - - - - - - - - - -
1 Paternal (confirmed) +?/. - likely pathogenic g.97981322C>T g.97515766C>T - - DPYD_000031 no DPD activity in cultured fibroblasts at 37oC PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Johan den Dunnen DPYD - - - - - 13 NM_000110.3:c.1700G>A - r.(?) p.(Gly567Glu) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/. - benign g.98165091T>C g.97699535T>C - - DPYD_000002 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Johan den Dunnen DPYD - - - - - - NM_000110.3:c.496A>G - r.496a>g p.Met166Val - - - - - - - - - - - - - - - - - - - -
1 Paternal (confirmed) ?/. - VUS g.98348885G>A - - - DPYD_000011 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Johan den Dunnen DPYD - - - - - - NM_000110.3:c.85C>T - r.85c>u p.Arg29Cys - - - - - - - - - - - - - - - - - - - -
3 Parent #1 -?/. - VUS g.38770232C>T g.38728741C>T - - SCN10A_000086 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs139861061 Germline - - - 0 - Johan den Dunnen SCN10A - - - - - - NM_006514.2:c.2441G>A - r.(?) p.(Arg814His) - - - - - - - - - - - - - - - - - - - -
3 Parent #2 +?/. - VUS g.38812897A>C g.38771406A>C - - SCN10A_000087 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs202192818 Germline - - - 0 - Johan den Dunnen SCN10A - - - - - - NM_006514.2:c.472T>G - r.(?) p.(Tyr158Asp) - - - - - - - - - - - - - - - - - - - -
3 Parent #2 ?/. - VUS g.127642198T>A g.127923355T>A - - KBTBD12_000002 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs191035790 Germline - - - 0 - Johan den Dunnen KBTBD12 - - - - - - NM_207335.2:c.294T>A - r.(?) p.(Asn98Lys) - - - - - - - - - - - - - - - - - - - -
3 Parent #1 -?/. - VUS g.127642561A>C g.127923718A>C - - KBTBD12_000001 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs148151101 Germline - - - 0 - Johan den Dunnen KBTBD12 - - - - - - NM_207335.2:c.657A>C - r.(?) p.(Gln219His) - - - - - - - - - - - - - - - - - - - -
5 Both (homozygous) +?/. - VUS g.110454719A>G g.111119021A>G - - WDR36_000004 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs34595252 Germline - - - 0 - Johan den Dunnen WDR36 - - - - - - NM_139281.2:c.1973A>G - r.(?) p.(Asp658Gly) - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) -?/. - likely benign g.32024374A>G g.32056597A>G - - TNXB_000084 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs28361051 Germline - - - 0 - Johan den Dunnen TNXB - - - - - - NM_019105.6:c.8132T>C - r.(?) p.(Ile2711Thr) - - - - - - - - - - - - - - - - - - - -
7 Parent #1 +?/. - VUS g.21640338G>T g.21600720G>T - - DNAH11_000138 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs72657303 Germline - - - 0 - Johan den Dunnen DNAH11 - - - - - - NM_001277115.1:c.3045G>T - r.(?) p.(Glu1015Asp) - - - - - - - - - - - - - - - - - - - -
7 Parent #2 +?/. - VUS g.21727045G>C g.21687427G>C - - DNAH11_000139 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Johan den Dunnen DNAH11 - - - - - - NM_001277115.1:c.5824G>C - r.(?) p.(Gly1942Arg) - - - - - - - - - - - - - - - - - - - -
16 Parent #1 -?/. - likely benign g.2812749A>C g.2762748A>C - - SRRM2_000008 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs150436880 Germline - - - 0 - Johan den Dunnen SRRM2 - - - - - - NM_016333.3:c.2220A>C - r.(?) p.(Arg740Ser) - - - - - - - - - - - - - - - - - - - -
16 Parent #2 +?/. - VUS g.2818066A>G g.2768065A>G - - SRRM2_000009 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs144257955 Germline - - - 0 - Johan den Dunnen SRRM2 - - - - - - NM_016333.3:c.7537A>G - r.(?) p.(Thr2513Ala) - - - - - - - - - - - - - - - - - - - -
19 Parent #1 +?/. - VUS g.44981185T>C g.44476968T>C - - ZNF180_000003 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs202025354 Germline - - - 0 - Johan den Dunnen ZNF180 - - - - - - NM_013256.3:c.1513A>G - r.(?) p.(Ser505Gly) - - - - - - - - - - - - - - - - - - - -
19 Parent #2 +?/. - VUS g.44982283T>A g.44478066T>A - - ZNF180_000004 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs199779777 Germline - - - 0 - Johan den Dunnen ZNF180 - - - - - - NM_013256.3:c.415A>T - r.(?) p.(Ile139Leu) - - - - - - - - - - - - - - - - - - - -
20 Parent #2 +?/. - VUS g.32000520G>C g.33412714G>C - - SNTA1_000007 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs56157422 Germline - - - 0 - Johan den Dunnen SNTA1 - - - - - - NM_003098.2:c.770C>G - r.(?) p.(Ala257Gly) - - - - - - - - - - - - - - - - - - - -
20 Parent #1 ?/. - VUS g.32031206G>A g.33443400G>A - - SNTA1_000009 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs572545726 Germline - - - 0 - Johan den Dunnen SNTA1 - - - - - - NM_003098.2:c.221C>T - r.(?) p.(Pro74Leu) - - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) +?/. - VUS g.8139147T>C g.8171106T>C - - VCX2_000020 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs4066728 Germline - - - 0 - Johan den Dunnen VCX2 - - - - - - NM_016378.2:c.-147+1A>G - r.spl p.? - - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) +?/. - VUS g.38031236G>A g.38171983G>A - - SRPX_000020 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - Johan den Dunnen SRPX - - - - - - NM_006307.4:c.424C>T - r.(?) p.(Arg142Trp) - - - - - - - - - - - - - - - - - - - -
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