Individual #00174829

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Norway
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PSS
Owner name Kohei Hamanaka


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     
0000139680 Global developmental delay Generalized hypotonia Macrocephaly Abnormal facial shape - - Isolated (sporadic) 09y - - - Kohei Hamanaka



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175720 DNA SEQ-NG-I Blood WES - 1 Kohei Hamanaka



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.45991407_45991408insTT - - - PHF21A_000007 - - - - De novo yes - - 0 - Kohei Hamanaka PHF21A - - - - - - NM_001101802.1:c.657_658insAA - likely pathogenic (dominant) r.(?) p.(Pro220Asnfs*48) - - - - - - - - - - - - - - - - - - -
Legend