Individual #00402812

ID_report Pat3
Reference PM1, PM2, PM5, PP3, PP5
Remarks 2-generation family, 1 affected, unaffected non carrier parents
Gender M
Consanguinity no
Country Mexico
Population -
Age at death -
VIP -
Data_av -
Treatment none
Panel size 1
Diseases DEDDFA
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2022-02-10 23:09:49 +01:00 (CET)
Date last edited 2025-04-02 09:29:07 +02:00 (CEST)


Phenotypes

Developmental delay with or without dysmorphic facies and autism (DEDDFA)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000295572 intellectual disability DEDDFA iris coloboma, neurodevelopmental delay , hypotonia, seizures, microcephaly, highly arched eyebrow, medial cleft lip and palate, bilateral cryptorchidism. Isolated (sporadic) 02y06m - - medial cleft lip and palate Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

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Owner     
0000404053 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing - 1 Miriam Erandi Reyna-Fabián



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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Protein level     
7 Unknown +/. ACMG likely pathogenic (dominant) g.98524941G>A g.98927318G>A - - TRRAP_000013 ACMG PM1, PM2, PM5, PP3, PP5; de novo in patient PubMed: Reyna-Fabian 2024 ClinVar-RCV000785654.1 rs1562945106 De novo - - HphI+, Tsp45I+, Cac8I- - - Miriam Erandi Reyna-Fabián TRRAP - - - - 23 NM_001244580.1:c.3127G>A - r.(?) p.(Ala1043Thr) - - - - - - - - - - - - - -
Legend   How to query  


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