Individual #00089055

ID_report -
Reference PubMed: Piard 2012
Remarks -
Gender F
Consanguinity no
Country ? (unknown)
Population -
Age/Death >04y (later than 4 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     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

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Protein     

Owner     
0000068444 generalized poikiloderma, which appeared in the first days of life, neutropenia, photosensitivity, dental dysplasia and nail dystrophy; no history of recurrent infections was reported; birth parameters were normal; no growth delay, no intellectual disability - - Familial, autosomal recessive - - - - - Elisa Adele Colombo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000089199 DNA PCR;SEQ blood - USB1 1 Elisa Adele Colombo
0000089202 DNA PCR;SEQ blood - USB1 1 Elisa Adele Colombo



Variants

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

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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VIP     

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Owner     

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ClassClinical     

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Protein     

P-domain     

Exon_old     

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Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
16 Maternal (confirmed) +?/+? g.58036527G>A g.58002623G>A - - USB1_000010 - PubMed: Piard et al. 2012 - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 2 NM_024598.3:c.243G>A - - r.? p.(Trp81*) - - - - - - - - - - - - - - - - - - -
16 Paternal (confirmed) +?/+? g.58043834T>A g.58009930T>A - - USB1_000013 - PubMed: Piard et al. 2012 - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 3 NM_024598.3:c.267T>A - - r.? p.(Tyr89*) - - - - - - - - - - - - - - - - - - -
Legend