Individual #00174862

ID_report 22770980-PatGM03316
Reference PubMed: Hyung-Goo 2012
Remarks -
Gender F
Consanguinity -
Country Venezuela
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     
0000139687 3y-intellectual disability, strikingly unusual dysmorphology syndrome including epicanthus, hypertelorism, oblique palpebral fissures, trigonocephaly, micrognathia; 5y-vocabulary progressing well, good memory, quantitative intelligence 3yr-old girl, inability to concentrate, feed herself when wished; 3y6m-gained control sphincters both day/night; shy, easily frightened, was clumsy with both hands and legs - - Isolated (sporadic) 03y06m - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175753 DNA arrayCGH;FISH - - PHF21A 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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.(43000000_43125403)_(46706549_47000000)del - t(X;11)(q11.1;p11.2)dn del(11)(p11.2p12) - PHF21A_000013 balanced translocation, 3.6Mb deletion PubMed: Hyung-Goo 2012 - - De novo - - - 0 - Johan den Dunnen PHF21A - - - - - _1_18_ NM_001101802.1:c.0 - - r.0 p.0 - - - - - - - - - - - - - - - - - - -
Legend