Individual #00379740

ID_report -
Reference -
Remarks Eight kindreds have been reported as to carry a c.5C>T variant
Families 1 & 2, Germany, with 4 affected individuals carrying c.5C>T
Family 3, France, a single affected individual presenting with a HAE type I phenotype
Family 4, France, with 2 affected compound heterozygous individuals c.[5C>T(;)1045C>T]
Family 5, Denmark, with an individual carrying a c.5C>T variant associated with anti-C1INH antibody
Family 6, Iran, with 2 male patients affected presenting a HAE type I phenotype
Family 7, Belarus, with a single affected female individual, who manifested HAE at the age of 10, skin and abdominal attacks 5 times a year. HAE type not documented.
Family 8, Turkey (n=2) with a female patient suffering since 2.5 years old (moderate) and a male individual since 10 years old from laryngeal attacks.
Gender -
Consanguinity no
Country Germany
Population France, Denmark, Iran, Belarus, Turkey
Age at death -
VIP -
Data_av -
Treatment -
Panel size 13
Diseases HAE1
Owner name Christian Drouet
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Christian Drouet
Date created 2021-08-07 19:12:44 +02:00 (CEST)
Date last edited 2025-03-21 10:03:18 +01:00 (CET)


Phenotypes

angioedema, hereditary, type 1 (HAE1;HAE2)   Add phenotype for this disease

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Owner     
0000273594 Probands presenting with a HAE type I phenotype - - Familial - - - - - Christian Drouet



Screenings


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Owner     
0000380942 DNA SEQ blood - SERPING1 1 Christian Drouet



Variants

1 entry on 1 page. Showing entry 1.
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11 Unknown -?/-? ACMG VUS g.57365748C>T g.57598275C>T - - SERPING1_000002 Conflicting presentations of the c.5C>T variant. Introduced in ClinVar as a VUS by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago. Variant c.5C>T is carried by 7 affected families. Families 1 & 2, Germany, 4 affected heterozygous individuals. HAE type not documented. Family 3, France, with a single affected individual presenting with a HAE type I mild phenotype. Family 4, France, a family where the proband is a compound heterozygous c.[5C>T];[1045C>T] and the c.5C>T allele is carried by the pauci-symptomatic mother. Family 5, Denmark, with a c.5C>T carrier associated with anti-C1Inh antibody. Family 6, Iran, with 2 male patients affected and presenting with a HAE type I phenotype. Family 7, Belarus (n=1), a young female patient presenting with a HAE type I phenotype since puberty. Family 8, Turkey (n=2) with a female patient suffering since 2.5 years old (moderate) and a male individual since 10 years old with laryngeal attacks. Five homozygous carriers c.[5C>T];[5C>T] have been recorded. Journal: Gösswein 2008 Journal: Ponard 2019 Journal: Rasmussen 2019 Journal: Nabilou 2020 Journal: Guryanova 2021 Journal: Soyak Aytekin 2021 ClinVar-SCV000898969.1 rs185342631 Germline yes 0.00089 (gnomAD v3); 0.001003 (TOPMED); 0.000799 (1000Genomes) - - - Christian Drouet SERPING1 - - - - 2 NM_000062.2:c.5C>T - r.(?) p.(Ala2Val) - - - - - - - - - - - - - -
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