Individual #00065226

ID_report 26924530 BAB4569
Reference PubMed: White 2016, Journal: White 2016
Remarks 2-generation family, 1 affected, unaffected non-carrier parents
Gender F
Consanguinity -
Country -
Population Caucasian
Age/Death >35y (later than 35 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DRS
Owner name Pieter Klap


Phenotypes

Robinow syndrome, autosomal dominant (DRS) (DRS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000051335 Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Proptosis (HP:0000520), Blue sclerae (HP:0000592), Epicanthus (HP:0000286), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Triangular mouth (HP:0000207), Gingival overgrowth (HP:0000212), cleft palate (HP:0000175), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Micrognathia (HP:0000347). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Abnormality of the sternum (HP:0000766). Hearing impairment (HP:0000365) - - Isolated (sporadic) 33y - - - - Pieter Klap



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065380 DNA;RNA RT-PCR;SEQ - - DVL3 1 Pieter Klap



Variants

1 entry on 1 page. Showing entry 1.
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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     
3 Unknown +/. g.183888108delC g.184170320delC - - DVL3_000002 - PubMed: White 2016, Journal: White 2016 - - De novo - - - 0 - Pieter Klap DVL3 - - - - - - NM_004423.3:c.1716delC - - r.1716del p.Ser573Valfs*95 - - - - - - - - - - - - - - - - - - -
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