Individual #00300262

ID_report R03-342
Reference PubMed: Duran 2017
Remarks fetus
Gender -
Consanguinity -
Country United States
Population European
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SRTD
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 2020-04-25 19:30:00 +02:00 (CEST)
Date last edited 2020-04-25 19:34:19 +02:00 (CEST)


Phenotypes

dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome) (SRTD)   Add phenotype for this disease

AscendingPhenotype ID     

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Phenotype/Onset     

Owner     
0000227563 short rib polydactyly syndrome SRTD7 22w-delivery; scalp edema, low set ears; hypertelorism; thin upper lip and micrognathia; narrow and barrel shaped chest, short and bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof; micromelia; postaxial polydactyly in the hands and feet, and aphalangia in the hands Familial, autosomal recessive <0d - - - Johan den Dunnen



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000301381 DNA SEQ;SEQ-NG - WES WDR35 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Parent #2 +/. - pathogenic (recessive) g.20146310G>A g.19946549G>A - - WDR35_000056 - PubMed: Duran 2017 - - Germline - - - - - Johan den Dunnen WDR35 - - - - - NM_001006657.1:c.1579C>T - r.(?) p.(Gln527*) - - - - - - - - - - - - - -
2 Parent #1 +/. - pathogenic (recessive) g.20153595C>T g.19953834C>T - - WDR35_000055 - PubMed: Duran 2017 - - Germline - - - - - Johan den Dunnen WDR35 - - - - - NM_001006657.1:c.1433G>A - r.(?) p.(Arg478Lys) - - - - - - - - - - - - - -
Legend   How to query  


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