Individual #00372554

ID_report Pat16
Reference Journal: Voisin 2021, Journal: Voisin 2021
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NDD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

neurodevelopmental delay (NDD) (NDD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000267868 neurodevelopmental delay - severe developmental delay/intellectual disability; Generalized and focal seizures (onset at 3 months, treatment resistant); Hypotonia; Strabismus; MRI brain borderline delayed myelination pattern, mild generalized prominence of the extra-axial CSF spaces; no microcephaly; Bulbous naval tip, anteverted nares; normal philtrum; normal mouth; no teeth and gum abnormalities; normal chin; abundant scalp hair; Large appearing ears; mesomelic dysplasia lower limbs; arms and legs radial heads hypoplastic and posteriorly subluxated, bilateral fibular hemimelia, long halluces; Overlapping fingers, Camptodactyly, 5th finger clinodactyly, hypoplastic flexion creases, single transverse palmar creases; Deep Sacral dimple; normal hips and pelvis; horseshoe kidney; no failure to thrive; no respiratory problems; Short stature, 2 small muscular ventricular septal defects, grade 1 vesicoureteral reflux Isolated (sporadic) 00y08m - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373787 DNA arraySNP;SEQ-NG - - AFF3 2 Johan den Dunnen



Variants

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

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     
2 Unknown +/. - pathogenic (dominant) g.(?_100235810)_(100704378_?)del - - - AFF3_000010 469 kb deletion Journal: Voisin 2021, Journal: Voisin 2021 - - De novo - - - 0 - Johan den Dunnen AFF3 - - - - - - NM_001025108.1:c.(?_53+16486)_(1260-17727_?)del, NM_002285.2:c.(?_53+16486)_(1185-17727_?)del - r.? p.? - - - - - - - - - - - - - - - - - - -
15 Maternal (confirmed) +/. - pathogenic (recessive) g.72668159G>T - - - HEXA_000046 - Journal: Voisin 2021, Journal: Voisin 2021 - - Germline - - - 0 - Johan den Dunnen HEXA - - - - - - NM_000520.4:c.155C>A - r.(?) p.(Ser52*) - - - - - - - - - - - - - - - - - - -
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