Individual #00057918

ID_report -
Reference PubMed: Colombo 2012
Remarks -
Gender F
Consanguinity ?
Country (France)
Population African
Age/Death >37y (later than 37 years)
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases PN
Owner name Ludovica Volpi


Phenotypes

poikiloderma, with neutropenia (PN) (PN)   Add phenotype for this disease

AscendingPhenotype ID     

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Protein     

Owner     
0000044568 autosomal recessive poikiloderma (early onset) with ichthyosis, palmoplantar keratoderma, pachyonychia, mild photosensitivity, chronic neutropenia, recalcitrant pulmonary disease, evidence reduced reactive oxygen species production in neutrophils - - Familial, autosomal recessive - 36y 0d - - Ludovica Volpi
0000045703 Poikiloderma, palmoplantar hyperkeratosis, nail toes abnormalities, multiple bone fractures and calcification, neutropenia, chronic haemolysis, recurrent infections since infancy, atrophic polychondritis - - Familial, autosomal recessive 36y 36y <01y - - Elisa Adele Colombo



Screenings


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Variants found     

Owner     
0000057881 DNA PCR;SEQ - - USB1 2 Ludovica Volpi



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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CpG     

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mRNA level     

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Protein level     
16 Paternal (inferred) +/+ g.58036463delC g.58002559delC - - USB1_000004 - Colombo 2010 ASHG, PubMed: Tanaka 2010; PubMed: Walne 2010 - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 2 NM_024598.3:c.179delC - - r.(?) p.(Pro60Leufs*55) - - - - - - - - - - - - - - - - - - -
16 Maternal (inferred) +/+ g.58036463delC g.58002559delC - - USB1_000004 - Colombo 2010 ASHG, PubMed: Tanaka 2010; PubMed: Walne 2010 - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 2 NM_024598.3:c.179delC - - r.(?) p.(Pro60Leufs*55) - - - - - - - - - - - - - - - - - - -
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