Individual #00300260

ID_report R06-303A
Reference PubMed: Duran 2017
Remarks 3-generation family, affected sister/fetus, unaffected heterozygous carrier parents/relatives
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
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 N/A


Phenotypes

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

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Owner     
0000227561 short rib polydactyly syndrome SRTD18 30w-delivery; dolichocephaly; brain with abnormal folding of the left hippocampus, neuroglial heterotopias in the roof of the temporal horn, and mildly dilated ventricles; hypertelorism, bilateral epicanthal folds; thin upper lip, attached to maxilla by mucosal fold, micrognathia; small chest, abnormally bent ribs, mild platyspondyly; liver with ductal abnormalities, pancreas with stellate area of fibrosis in the tail; abnormal maturation of the kidneys with a poorly formed nephrogenic zone, thin cortex and medulla, and fibrosis; micromelia, reverse campomelia of humeri, curved radii, and ulnae; abnormal ilia; micromelia, thin fibulae; postaxial polydactyly with brachydactyly, bilateral simian creases, bilateral partial syndactyly of the second and third toes Familial, autosomal recessive <0d - - - Johan den Dunnen



Screenings


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Owner     
0000301379 DNA SEQ;SEQ-NG - WES IFT43 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Legacy protein change     

Protein level     
14 Both (homozygous) +/. - pathogenic (recessive) g.76452131T>A g.75985788T>A - - IFT43_000023 - PubMed: Duran 2017 - - Germline - - - - - Johan den Dunnen IFT43 - - - - - NM_052873.2:c.2T>A - r.(?) p.(Met1?) - - - - - - - - - - - - - -
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