Individual #00435482

ID_report Pat3
Reference PubMed: Buck 2006
Remarks 2-generation family, 2 affected sibs, unaffected heterozygous parents (1st degree cousins)/relatives
Gender -
Consanguinity yes
Country Turkey
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-08-03 09:30:42 +02:00 (CEST)
Date last edited N/A


Phenotypes

immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation (-)   Add phenotype for this disease

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Protein     

Owner     
0000325669 see paper; ..., microcephaly; growth retardation; birdlike face, bone malformation; infections bacterial and opportunistic; autoimmune anemia, thrombocytopenia - - Familial, autosomal recessive 14y - - - - Johan den Dunnen



Screenings


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Owner     
0000436961 DNA;RNA RT-PCR;SEQ - - NHEJ1 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Legacy protein change     

Protein level     
2 Both (homozygous) +/. - pathogenic (recessive) g.220022905_220022907delinsAA g.219158183_219158185delinsAA G267del, +3A>T - NHEJ1_000024 - PubMed: Buck 2006 - - Germline yes - - - - Johan den Dunnen NHEJ1 - - - - 2i NM_024782.2:c.177+1_177+3delinsTT - r.[177del, 55_177del,?] p.[Glu60Serfs*2,Ala19_Lys59del,?] - - - - - - - - - - - - - -
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