Individual #00426525

ID_report Pat51
Reference PubMed: Ge 2019, PubMed: Tan 2021
Remarks family affected brother/sister
Gender F
Consanguinity -
Country China
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases MDC
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 2022-12-01 16:50:45 +01:00 (CET)
Date last edited N/A


Phenotypes

dystrophy, muscular, congenital (MDC) (MDC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000317680 8m-head control, 1y-sit, 2.5y-walk; no motor regression; contractures ankle; no spinal deformity; 4y-recurrent respiratory tract infection; ECG normal; normal ultrasonic cardiogram; no feeding difficulty; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 4.7y-2500 U/L; EMG 1.4y-myopathic changes; MRI brain 4.1y-abnormal white matter hyperintensities congenital muscular dystrophy MDC1A Familial, autosomal recessive 6y - 1d muscle weakness, hypotonia - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000427846 DNA SEQ - - LAMA2 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

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VIP     

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Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
6 Maternal (confirmed) +/. ACMG pathogenic (recessive) g.129204446dup g.128883301dup c.56dupG - LAMA2_000764 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - Johan den Dunnen LAMA2 - - - - 1 NM_000426.3:c.56dup - r.(?) p.(Val20ArgfsTer30) - - - - - - - - - - - - - -
6 Paternal (confirmed) +/. ACMG pathogenic (recessive) g.129794441_129794445del g.129473296_129473300del - - LAMA2_000824 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - Johan den Dunnen LAMA2 - - - - 52 NM_000426.3:c.7383_7387del - r.(?) p.(Asp2461GlufsTer4) - - - - - - - - - - - - - -
Legend   How to query  


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