Individual #00059219

ID_report -
Reference PubMed: Mostefai 2008, PubMed: Tanaka 2010, PubMed: Walne et al 2010
Remarks the patient has an affected sister and an affected Brother.
Gender F
Consanguinity yes
Country Morocco
Population Moroccan
Age/Death >08y (later than 8 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PN
Owner name Elisa Adele Colombo


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

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Protein     

Owner     
0000045726 poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; myeloid abnormalities; splenomegaly; chronic pulmonary infiltrates following chest X-rays. - - Familial, autosomal recessive 00y04m 08y - - - Elisa Adele Colombo



Screenings


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Owner     
0000059205 DNA arraySNP;PCR;SEQ - - USB1 1 Elisa Adele Colombo



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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P-domain     

Exon_old     

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Protein level     
16 Both (homozygous) +?/+? g.58036463delC g.58002559delC - - USB1_000004 - PubMed: Tanaka et al. 2010, PubMed: Walne et al. 2010 - rs786205051 Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 2 NM_024598.3:c.179delC - - r.? p.(Pro60Leufs*55) - - - - - - - - - - - - - - - - - - -
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