Individual #00050521

ID_report -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
Remarks family, 1 affected
Gender F
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age/Death -
VIP 0
Data_av Decipher
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000037133 - - Isolated (sporadic) - - microcephaly, global developmental delay, joint hypermobility, proportionate short stature, delayed speech and language development - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050466 DNA SEQ;SEQ-NG-I - - TCF4 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
16 Paternal (confirmed) +/. g.29989010_30038245dup g.29977689_30026924dup - - FAM57B_000003 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen C16orf92, DOC2A, FAM57B, HIRIP3, INO80E, TAOK2 - - - - - - NM_001109659.1:c.-45652_*2697dup, NM_003586.2:c.-16035_*28497dup, NM_031478.4:c.210-81_*47494dup, NM_003609.4:c.-31319_*15518dup, NM_173618.1:c.-18622_*21482dup, NM_016151.3:c.-35-49_*38944dup - - - - - - - - - - - - - - - - - - - - - - -
18 Unknown +/. g.52895593C>T g.55228362C>T - - TCF4_000093 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen TCF4 - - - - - 18i NM_001083962.1:c.1880-1G>A - - r.spl p.? - - - - - - - - - - - - - - - - - - -
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