Individual #00399295

ID_report family
Reference PubMed: Cluzeau 2019
Remarks 5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives
Gender F;M
Consanguinity yes
Country Tunisia
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 6
Diseases ECTD
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 2022-01-19 11:04:59 +01:00 (CET)
Date last edited N/A


Phenotypes

dysplasia, ectodermal (ECTD) (ECTD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000292412 anhidrotic ectodermal dysplasia ECTD11B see paoer; ..., severe hypo-hidrotic and anhidrotic ectodermal dysplasia, multiple pulmonary infections; sparse hair, oligodontia with conical widely spaced teeth, ichthyosiform dry skin, prominent lips, frontal bossing, pointed chin; inability to sweat, episodes severe hyperpyrexia since early childhood Familial, autosomal recessive - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400538 DNA arraySNP;SEQ - - EDARADD 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Both (homozygous) +/. - pathogenic (recessive) g.(236577600_236590691)_(236590751_236631530)del g.(236414300_236427391)_(236427451_236468230)del c.131-?_189+?del ex4 - EDARADD_000010 - PubMed: Cluzeau 2019 - - Germline yes - - - - Johan den Dunnen EDARADD - - - - 3i_4i NM_145861.2:c.(160+1_161-1)_(219+1_220-1)del - r.? p.? - - - - - - - - - - - - - -
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