Individual #00174859

ID_report 22770980-PatMCN1762
Reference PubMed: Hyung-Goo 2012
Remarks -
Gender F
Consanguinity -
Country United States
Population white
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     
0000139684 intellectual disability, facial dysmorphism, narrow nose, downturned mouth, brachycephaly, microcephaly, myopia, hypotonia; no large ears, no strabismus,no heart defect, no small hands and feet, no multiple exostoses, no parietal foramina, no tapering fingers, no digitalized thumbs, no retinal dystrophy - - Isolated (sporadic) 42y - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175750 DNA FISH;PCR;SEQ - - PHF21A 4 Johan den Dunnen



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
1 Unknown +/. g.(pter_)106964373::[NC_000011.9:46063698(_qter)] - - t(1;11)(p21.1;p11.2)dn chr1_008060 - PubMed: Hyung-Goo 2012 - - DUPLICATE record - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. g.[NC_000011.9:(pter_)46063695]::insCTCCAAAT;106964377(_qter) - - t(1;11)(p21.1;p11.2)dn chr1_008061 - PubMed: Hyung-Goo 2012 - - De novo - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown +/. g.(pter_)46063695::insCTCCAAAT;[NC_000001.10:106964377(_qter)] - - t(1;11)(p21.1;p11.2)dn PHF21A_000011 - PubMed: Hyung-Goo 2012 - - DUPLICATE record - - - 0 - Johan den Dunnen PHF21A - - - - - 5i NM_001101802.1:c.?::insATTTGGAG;153+34610 - pathogenic r.? p.? - - - - - - - - - - - - - - - - - - -
11 Unknown +/. g.[NC_000001.10:(pter_)106964373]::46063698(_qter) - - t(1;11)(p21.1;p11.2)dn PHF21A_000010 - PubMed: Hyung-Goo 2012 - - De novo - - - 0 - Johan den Dunnen PHF21A - - - - - 5i NM_001101802.1:c.153+34607::? - pathogenic (dominant) r.? p.? - - - - - - - - - - - - - - - - - - -
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