Individual #00056494

ID_report -
Reference PubMed: Raphael 2014, Journal: Raphael 2014
Remarks 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/sibs
Gender F
Consanguinity no
Country United States
Population Jewish-Ashkenazi;Ukrain;Poland;Ireland
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases MEB
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

muscle-eye-brain disease (MEB) (MEB)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Owner     
0000043182 see paper; alpha-dystroglycanopathy, congenital muscular dystrophy, generalized seizures, developmental delay, elevated serum creatine kinase, microcephaly, plagiocephaly (1), feeding difficulties, proximal weakness, epilepsy ( (absence, myoclonic, drop attacks) (1), strabismus, …; CPK 4233-4505 U/L - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000056455 DNA SEQ;SEQ-NG - - 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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CpG     

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Legacy protein change     

Protein level     
3 Maternal (confirmed) +/. - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - PubMed: Raphael 2014, Journal: Raphael 2014 - rs202160208 Germline yes - - 0 - Johan den Dunnen GMPPB - - - - - NM_021971.2:c.860G>A - r.(?) p.(Arg287Gln) - - - - - - - - - - - - - - - - - - -
3 Paternal (confirmed) +/. - pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - PubMed: Raphael 2014, Journal: Raphael 2014 - - Germline yes - - 0 - Johan den Dunnen GMPPB - - - - - NM_021971.2:c.656T>C - r.(?) p.(Ile219Thr) - - - - - - - - - - - - - - - - - - -
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