Individual #00266199

ID_report Pat7
Reference PubMed: Hackmann 2016, PubMed: Fiordaliso 2019
Remarks 2-generation family, 1 affected, carrier mother
Gender M
Consanguinity no
Country Germany
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000203976 Lujan-Fryns syndrome - Familial, X-linked recessive - - developmental delay, intellectual disability; no ADHD/aggressive behavior; hypotonia; long face, short philtrum, open mouth appearance, midface hypoplasia, prominent/large ears; 21y-mitral valves prolapse with the minimal mitral regurgitation; tall stature, scoliosis, pectus carinatum, slender limbs, joint laxity, camptodactyly, arachnodactyly - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267320 DNA SEQ;SEQ-NG - WES NKAP 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic (recessive) g.119064054C>T g.119930091C>T - - NKAP_000020 - PubMed: Fiordaliso 2019 - - Germline - - - 0 - Johan den Dunnen NKAP - - - - - - NM_024528.3:c.998G>A - r.(?) p.(Arg333Gln) - - - - - - - - - - - - - - - - - - - -
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