Individual #00213301

ID_report 18252226-RAPSNF1.II5
Reference PubMed: Michalk 2008, {OMIM601592:0013}
Remarks -
Gender F
Consanguinity -
Country Pakistan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FADS
Owner name Johan den Dunnen


Phenotypes

akinesia, fetal, deformation sequence (FADS) (FADS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000161776 faciocranial dysmorphism, jigh arched palate, cleft palate, downslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, hypotonia, contractures fetal akinesia deformation sequence FADS Isolated (sporadic) - - <0d respiratory/feeding problems, weak cry, decreased movements, joint contractures - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214371 DNA SEQ - - RAPSN 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
11 Maternal (confirmed) g.47464332G>A - - - RAPSN_000044 not in 300 control chromosomes PubMed: Michalk 2008, OMIM:var0014 - - Germline - - - 0 - Johan den Dunnen RAPSN +/. - - - - - 3 NM_005055.3:c.566C>T - pathogenic r.(?) p.(Ala189Val) - - - - - - - - - - - - - - - - - - - - - - -
11 Paternal (confirmed) g.47469479A>G - - - RAPSN_000043 not in 300 control chromosomes PubMed: Michalk 2008, OMIM:var0013 - - Germline - - - 0 - Johan den Dunnen RAPSN +/. - - - - - 2 NM_005055.3:c.416T>C - pathogenic r.(?) p.(Phe139Ser) - - - - - - - - - - - - - - - - - - - - - - -
Legend