Individual #00080092

ID_report 21278389-Pat4
Reference PubMed: Grønskov 2010, PubMed: Murphy 2008, for EUCID-SRS consortium
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?, SRS
Owner name Zeynep Tümer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2016-09-01 17:30:25 +02:00 (CEST)
Date last edited 2020-10-01 16:52:23 +02:00 (CEST)


Phenotypes

Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS)) (SRS;RSS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Growth/Prenatal     

Growth/Postnatal     

Head/Size     

Asymmetry     

Abdominal/Symptoms     

Phenotype details     

Inheritance     

Birth_Details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000082728 SGA unlikely SRS (Netchine Harbison-Score 2/5) small growth retardation (postnatal) nr no asymmetric growth no feeding problems see paper; ..., no prominent forehead (-HP:0011220) Unknown - - - - - - Zeynep Tümer



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080177 DNA microscope; FISH - - - 4 Zeynep Tümer
0000080178 DNA SEQp - - - 1 Zeynep Tümer



Variants

5 entries on 1 page. Showing entries 1 - 5.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Predicted     

Type/DNA     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Paternal (confirmed) +/. - pathogenic g.pter_(9200001_12700000)delins[NC_000011.9:pter_(1830728_2019246)] - 46,XX,t(1;11)(p36.22;p15.5)pat and 11p15.5 breakpoint at chr11:1,862,216-1,921,555 (hg18) 46,XX,t(1;11)(p36.22;p15.5)pat.ish t(1;11)(RP11-534I22+;RP11-534I22+) chr1_000861 translocation; disrupts mesodermal enhancer PubMed: Grønskov 2010, PubMed: Murphy 2008, for EUCID-SRS consortium - - Germline - - - - - Zeynep Tümer - - - - - - - - - - - - - - - - - -
1 Unknown +/. - pathogenic g.[NC_000011.9:pter_(1830728_2019246)]delinspter_(9200001_12700000) - 46,XX,t(1;11)(p36.22;p15.5)pat and 11p15.5 breakpoint at chr11:1,862,216-1,921,555 (hg18) 46,XX,t(1;11)(p36.22;p15.5)pat.ish t(1;11)(RP11-534I22+;RP11-534I22+) chr1_000000 translocation; disrupts mesodermal enhancer for EUCID-SRS consortium - - DUPLICATE record - - - - - Zeynep Tümer - - - - - - - - - - - - - - - - - -
11 Paternal (confirmed) +/. - pathogenic g.pter_(1830728_2019246)delins[NC_000001.10:pter_(9200001_12700000)] - 46,XX,t(1;11)(p36.22;p15.5)pat and 11p15.5 breakpoint at chr11:1,862,216-1,921,555 (hg18) 46,XX,t(1;11)(p36.22;p15.5)pat.ish t(1;11)(RP11-534I22+;RP11-534I22+) chr11_000447 translocation; disrupts mesodermal enhancer PubMed: Grønskov 2010, PubMed: Murphy 2008, for EUCID-SRS consortium - - Germline - - - - - Zeynep Tümer - - - - - - - - - - - - - - - - - -
11 Unknown +/. - pathogenic g.[NC_000001.10:pter_(9200001_12700000)]delinspter_(1830728_2019246) - 46,XX,t(1;11)(p36.22;p15.5)pat and 11p15.5 breakpoint at chr11:1,862,216-1,921,555 (hg18) 46,XX,t(1;11)(p36.22;p15.5)pat.ish t(1;11)(RP11-534I22+;RP11-534I22+) chr11_000000 translocation; disrupts mesodermal enhancer for EUCID-SRS consortium - - DUPLICATE record - - - - - Zeynep Tümer - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.2719948_2722259|lom - - - chr11_000448 - PubMed: Grønskov 2010, PubMed: Murphy 2008, for EUCID-SRS consortium - - Somatic - - - - loss of methylation H19/IGF2:IG-DMR, normal methylation KCNQ1OT1:TSS-DMR, normal methylation H19/IGF2:IG-DMR Zeynep Tümer - - - - - - - - - - - - - - - - - -
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