Individual #00174861

ID_report 22770980-PatGILLE
Reference PubMed: Fantes 2008
Remarks -
Gender F
Consanguinity -
Country Pakistan
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     
0000139686 intellectual disability, facial dysmorphism, narrow nose, mild craniofacial asymmetry and thin corpus callosum, hypoplasia of inferior cerebellar vermis, nystagmus, hypotonia, iris hypoplasia, superior atypical coloboma, foveal hypoplasia; no large ears, no multiple exostoses, no parietal foramina Gillespie syndrome - Isolated (sporadic) 00y08m - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175752 DNA FISH - - ARHGAP6, PHF21A 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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.[chrX:pter_(11156982_11682949)]::(45955518_46105771)_cen_qter - - t(X;11)(p22.3;p12) PHF21A_000012 - PubMed: Fantes 2008 - - De novo - - - 0 - Johan den Dunnen PHF21A - - - - - - NM_001101802.1:c.(-1_*1)::[NM_013427.2:(-1_*1)] - - r.? p.? - - - - - - - - - - - - - - - - - - -
X Unknown ?/. g.[chr11:pter_(45955518_46105771)]::(11156982_11682949)_cen_qter - - t(X;11)(p22.3;p12) ARHGAP6_000032 - PubMed: Fantes 2008 - - De novo - - - 0 - Johan den Dunnen ARHGAP6 - - - - - _1_13_ NM_013427.2:c.(-1_*1)::[NM_001101802.1:(-1_*1) - - r.? p.? - - - - - - - - - - - - - - - - - - -
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