Individual #00056480

ID_report -
Reference -
Remarks 2-generation family, 1 affected, unaffected carrier parents
Gender M
Consanguinity -
Country Egypt
Population -
Age/Death >18y (later than 18 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD-2
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) (LGMD-2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000043168 - Isolated (sporadic) - - - 2y6m difficulty climbing staris, microcephaly no prenatal findings; mild intellectual delay; epilepsy; cataracts; nystagmus; wandering atrial pacemaker; cardiomyopathy; respiratory insufficiency; brain MRI no structural abnormality; CPK 5,200 max U/l; max motor ability run - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056441 DNA SEQ; SEQ-NG-I - - GMPPB 2 Johan den Dunnen



Variants

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

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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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     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
3 Paternal (confirmed) +/. g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen GMPPB - - - - - 5 NM_013334.3:c.553C>T - - r.(?) p.(Arg185Cys) - - - - - - - - - - - - - - - - - - -
3 Maternal (confirmed) +/. g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen GMPPB - - - - - 5 NM_013334.3:c.553C>T - - r.(?) p.(Arg185Cys) - - - - - - - - - - - - - - - - - - -
Legend