Individual #00402813

ID_report Pat4
Reference PubMed: Reyna-Fabian 2024
Remarks familial case, father (unaffected heterozygous carrier)
Gender M
Consanguinity no
Country Mexico
Population -
Age at death -
VIP -
Data_av -
Treatment none
Panel size 1
Diseases LADD
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 23:34:51 +01:00 (CET)
Date last edited 2025-04-02 09:31:30 +02:00 (CEST)


Phenotypes

lacrimoauriculodentodigital syndrome (LADD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000295573 corneal opacity, anophthalmia, neurodevelopmental delay, hipotonia, abnormality of the pinna, severe hearing impairment, atresia of the external auditory canal, conical tooth, syndactyly, small nail. anophthalmia LADD syndrome Familial, autosomal dominant 02y01m - - anophthalmia (HPO:0000528) - Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000404054 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     

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     
10 Paternal (confirmed) +?/. ACMG likely pathogenic (dominant) g.123298225C>T g.121538711C>T - - FGFR2_000148 ACMG PP1, PM1, PM2, PP3, PP5; variant not previously reported in public databases nor literature PubMed: Reyna-Fabian 2024 - - Germline yes - - - - Miriam Erandi Reyna-Fabián FGFR2 - - - - 6 NM_000141.4:c.629G>A - r.(?) p.(Arg210Gln) - - - - - - - - - - - - - -
Legend   How to query  


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