Individual #00285921

ID_report Fam18PatII2/FamPat1
Reference PubMed: Timberlake 2017, PubMed: Timberlake 2018
Remarks 2-generation family, 1 affected, unaffected parents
Gender F
Consanguinity no
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases CRS
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 2020-02-09 11:09:32 +01:00 (CET)
Date last edited 2020-02-09 12:47:35 +01:00 (CET)


Phenotypes

craniosynostosis (CRS) (CRS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000219794 see paper; ..., sagittal craniosynostosis, coronal craniosynostosis, recurrence of CS within two months initial surgery requiring second operatio craniosynostosis - Di-genic - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000287078 DNA SEQ;SEQ-NG - - BMP2, SMAD6, TCF12 7 Johan den Dunnen



Variants

7 entries on 1 page. Showing entries 1 - 7.
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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     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown +/. - VUS g.151694016G>T g.151721540G>T - - RIIAD1_000001 - PubMed: Timberlake 2018 - - Germline - - - - - Johan den Dunnen RIIAD1 - - - - - NM_001144956.1:c.4G>T - r.(?) p.(Glu2*) - - - - - - - - - - - - - -
4 Unknown +/. - VUS g.185033931_185033932del g.184112778_184112779del - - ENPP6_000001 - PubMed: Timberlake 2018 - - Germline - - - - - Johan den Dunnen ENPP6 - - - - - NM_153343.3:c.886_887del - r.(?) p.(Met296Aspfs*28) - - - - - - - - - - - - - -
14 Unknown +/. - VUS g.70418935_70418945del g.69952218_69952228del 70418934_70418944del - SMOC1_000013 - PubMed: Timberlake 2018 - - Germline - - - - - Johan den Dunnen SMOC1 - - - - - NM_001034852.2:c.180_190del - r.(?) p.(Arg61Valfs*4) - - - - - - - - - - - - - -
15 Unknown +/. - pathogenic (!) g.57555369_57555372del g.57263171_57263174del 1639_1642del - TCF12_000059 suggested di-genic inheritance PubMed: Timberlake 2018 - - De novo - - - - - Johan den Dunnen TCF12 - - - - - NM_207037.1:c.1642_1645del - r.(?) p.(Glu548Argfs*14) - - - - - - - - - - - - - -
15 Paternal (confirmed) +/. - pathogenic (!) g.66996061_66996067del g.66703723_66703729del 455_461del - SMAD6_000060 suggested di-genic inheritance PubMed: Timberlake 2018 - - Germline - - - - - Johan den Dunnen SMAD6 - - - - - NM_005585.4:c.465_471del - r.(?) p.(Gly156Valfs*23) - - - - - - - - - - - - - -
19 Unknown +/. - VUS g.58199463del g.57688095del R579fs - ZNF551_000002 - PubMed: Timberlake 2018 - - Germline - - - - - Johan den Dunnen ZNF551 - - - - - NM_138347.4:c.1820del - r.(?) p.(Arg607Lysfs*77) - - - - - - - - - - - - - -
20 Both (homozygous) -/. - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2018 - rs1884302 Germline - - - - - Johan den Dunnen BMP2 - - - - - NM_001200.2:c.= - r.= p.= - - - - - - - - - - - - - -
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