Individual #00311110

ID_report Pat12
Reference PubMed: Johnson 2018
Remarks -
Gender M
Consanguinity -
Country -
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MDDG
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dystrophy, muscular, dystroglycanopathy (MDDG) (MDDG)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

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Phenotype/Onset     

Protein     

Owner     
0000236366 onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.59; muscle weakness p roximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2390 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 54y - - - α-DG deficiency Johan den Dunnen



Screenings


AscendingScreening ID     

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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312262 DNA SEQ;SEQ-NG - WES GMPPB 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)     

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ISCN     

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Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

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mRNA level     

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Predict/Splice     

Legacy protein change     

Protein level     
3 Parent #2 +?/. - likely pathogenic (recessive) g.49759490G>A g.49722057G>A - - GMPPB_000013 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen GMPPB - - - - - NM_021971.2:c.859C>T - r.(?) p.(Arg287Trp) - - - - - - - - - - - - - - - - - - -
3 Parent #1 +?/. - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen GMPPB - - - - - NM_021971.2:c.79G>C - r.(?) p.(Asp27His) - - - - - - - - - - - - - - - - - - -
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