Individual #00059221

ID_report -
Reference PubMed: Mostefai 2008,PubMed: Tanaka 2010,PubMed: Walne 2010
Remarks the patient has two elder affected sisters (LOVD ID 59219 and 59220)
Gender M
Consanguinity yes
Country Morocco
Population Moroccan
Age/Death -
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     
0000045728 poikiloderma, photosensitivity; atrophic scars on dorsum of limbs; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; transient thrombocytopenia and neutropenia; maturation defects in bone marrow lineages; chronic pulmonary infiltrates following chest X-rays. - - Familial, autosomal recessive - - - skin manifestations at 6m - Elisa Adele Colombo



Screenings


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Owner     
0000059207 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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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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