Individual #00057926

ID_report -
Reference PubMed: Pianigiani 2001, PubMed: Volpi 2010
Remarks Compound heterozygous affected patient
Gender F
Consanguinity no
Country Italy
Population Caucasian
Age/Death >22y (later than 22 years)
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases PN
Owner name Johan den Dunnen


Phenotypes

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

AscendingPhenotype ID     

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Owner     
0000044576 Diffuse poikiloderma, severe neutropenia, recurrent infections (otitis, bronchitis and gastroenteritis), saddle nose, hypertelorism, short stature, palmoplantar hyperkeratosis, onychodystrophy, delayed bone maturation, moderate splenomegalia - - Familial, autosomal recessive - 20y 00y06m - - Johan den Dunnen



Screenings


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Owner     
0000057889 DNA;RNA PCR;RT-PCR;SEQ - - USB1 2 Johan den Dunnen



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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Protein level     
16 Maternal (confirmed) +/+ g.58048229A>G g.58014325A>G - - USB1_000003 reference sequence article is NM_024598.2; variant causes exon 4 skipping PubMed: Volpi 2010, OMIM:var0003 - - Germline yes - - 0 - Johan den Dunnen USB1 - - - - - 4 NM_024598.3:c.502A>G - - r.450_503del p.Phe151_Arg168del - - - - - - - - - - - - - - - - - - -
16 Paternal (confirmed) +/+ g.58052949_58052960del g.58019045_58019056del NM_024598.2:c.666_676+1 del12 (D204_Q231del) - USB1_000002 - PubMed: Volpi 2010 - - Germline yes - - 0 - Johan den Dunnen USB1 - - - - - 6_6i NM_024598.3:c.683_693+1del - - r.610_693del p.Asp204_Gln231del - - - - - - - - - - - - - - - - - - -
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