Individual #00361518

ID_report 15DG1212
Reference PubMed: Anazi 2017
Remarks simplex case
Gender F
Consanguinity yes
Country Saudi Arabia
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000256923 intellectual disability - Familial, autosomal recessive not syndromic; neurodegeneration, mild microcephaly, spasticity, large capillary hemangioma 6y6m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362746 DNA SEQ-NG - 758-gene panel PLA2G6 1 Johan den Dunnen



Variants

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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
22 Both (homozygous) +?/. ACMG likely pathogenic g.38525523del g.38129516del - - PLA2G6_000183 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen PLA2G6 - - - - - - NM_003560.2:c.1125del - r.(?) p.(Val376Trpfs*14) - - - - - - - - - - - - - - - - - - - -
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