Individual #00390617

ID_report Pat134
Reference PubMed: Song 2021
Remarks -
Gender M
Consanguinity -
Country China
Population -
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     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000284154 muscle-eye-brain disease; 1y3m-walk supported; no contractures; intellectual disability; no seizures; esotropia; CK level 565 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 2y - 4m - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391858 DNA SEQ;SEQ-NG - - - 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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

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     
1 Parent #2 +/. - pathogenic (recessive) g.235617596C>T g.235454284C>T - - B3GALNT2_000028 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen B3GALNT2 - - - - - NM_152490.3:c.1183G>A - r.(?) p.(Gly395Arg) - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/. - pathogenic (recessive) g.235667505dup g.235504205dup c.48dupG - B3GALNT2_000030 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen B3GALNT2 - - - - - NM_152490.3:c.48dup - r.(?) p.(Leu17AlafsTer36) - - - - - - - - - - - - - - - - - - -
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