Individual #00248435

ID_report Fam
Reference PubMed: Ravenscroft 2013
Remarks 2-generation family, 3 affected fetuses (F, 2M), unaffected heterozygous carrier parents
Gender F;M
Consanguinity no
Country Australia
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000187426 foetal akinesia - see paper; ..., lethal multiple pterygium syndrome Familial, autosomal recessive - - <00y00m00d - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249539 DNA SEQ;SEQ-NG - - GBE1 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     
3 Maternal (confirmed) +/. - pathogenic (recessive) g.81691968T>C g.81642817T>C - - GBE1_000043 - PubMed: Ravenscroft 2013 - - Germline yes - - - - Johan den Dunnen GBE1 - - - - - NM_000158.3:c.956A>G - r.(?) p.(His319Arg) - - - - - - - - - - - - - - - - - - -
3 Paternal (confirmed) +/. - pathogenic (recessive) g.81698005A>G g.81648854A>G - - GBE1_000027 - PubMed: Ravenscroft 2013 - - Germline yes - - - - Johan den Dunnen GBE1 - - - - - NM_000158.3:c.691+2T>C - r.spl p.? - - - - - - - - - - - - - - - - - - -
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