Individual #00174866

ID_report 22770980-PSS-Romeike
Reference PubMed: Hyung-Goo 2012
Remarks -
Gender M
Consanguinity -
Country Belgium
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PSS
Owner name Johan den Dunnen


Phenotypes

syndrome, Potocki-Shaffer (PSS, chromosome 11p11.2 deletion syndrome (P11pDS)) (PSS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000139691 PSS, intellectual disability, craniofacial anomalies; 31y-microcephaly, brachycephaly, broad forehead, long narrow nose, hypoplastic mandible, very thin lips, hypotelorism, dysplastic low set ears, no speech PSS - Unknown 31y - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175757 DNA arrayCGH - - PHF21A 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
11 Unknown +/. g.(38500000_38824655)_(50638770_51000000)del - - del(11)(p11.2p12) PHF21A_000013 11.9 MB deletion PubMed: Hyung-Goo 2012 - - Unknown - - - 0 - Johan den Dunnen PHF21A - - - - - _1_18_ NM_001101802.1:c.0 - - r.0 p.0 - - - - - - - - - - - - - - - - - - -
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