Individual #00089064

ID_report -
Reference PubMed: Clericuzio 2011
Remarks -
Gender F
Consanguinity no
Country ? (unknown)
Population 6.25% Cherokee, 93,75% Caucasian
Age/Death >07y (later than 7 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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Owner     
0000068458 Cutaneous rash started at 4 months of age, then evolved in poikiloderma; neutropenia; recurrent otitis media, bronchitis, cellulitis; pachyonychia; autoimmune thyroiditis; history of chronic diarrhea in infancy; calcinosis cutis. The patient received GCSF. Bone marrow studies were normal. - - Familial, autosomal recessive ? 01y 00y04m - - Elisa Adele Colombo



Screenings


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Owner     
0000089209 DNA PCR;SEQ blood or EBV-transformed lymphoblastoid cell lines - USB1 2 Elisa Adele Colombo



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Protein level     
16 Unknown +?/+? g.58043982C>T g.58010078C>T - - USB1_000014 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 3 NM_024598.3:c.415C>T - - r.? p.(Gln139*) - - - - - - - - - - - - - - - - - - -
16 Unknown +?/+? g.58052939C>T g.58019035C>T - - USB1_000015 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 6 NM_024598.3:c.673C>T - - r.? p.(Gln225*) - - - - - - - - - - - - - - - - - - -
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