Individual #00372528

ID_report ESTPatII1
Reference PubMed: Coppens 2021, Journal: Coppens 2021
Remarks 2-generation family, 1 affected
Gender F
Consanguinity no
Country Estonia
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MD
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dystrophy, muscular (MD) (MD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000267842 onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; contractures ankles/elbows; atrophy prox > distal; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC normal; speech delay; raised CK 1.5x; EMG myopathic; muscle biopsy dystrophic; mitral valve prolapse (non-significant) muscular dystrophy - Familial, autosomal recessive 11y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373761 DNA SEQ-NG - WES JAG2 2 LOVD



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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
14 Parent #2 +/. - pathogenic (recessive) g.105613669G>A g.105147332G>A - - JAG2_000008 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - LOVD JAG2 - - - - - - NM_002226.4:c.2473C>T - r.(?) p.(Arg825Cys) - - - - - - - - - - - - - - - - - - -
14 Parent #1 +/. - pathogenic (recessive) g.105634228T>C g.105167891T>C - - JAG2_000017 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - LOVD JAG2 - - - - - - NM_002226.4:c.283A>G - r.(?) p.(Thr95Ala) - - - - - - - - - - - - - - - - - - -
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