Individual #00361753

ID_report PatD
Reference PubMed: Lessel 2017
Remarks 2-generation family, 1 affected, unaffected non-carrier parents
Gender F
Consanguinity no
Country -
Population Yemenite;Tripolitan;Jewish
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     
0000257144 neurodevelopmental disorder - see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; sleep disturbance; seizures; no feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, enlarged ventricles Isolated (sporadic) 8y - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362981 DNA SEQ;SEQ-NG - trio WES DHX30 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     

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     
3 Unknown +/. - pathogenic (dominant) g.47889725G>A g.47848235G>A - - DHX30_000004 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen DHX30 - - - - - NM_138615.2:c.2342G>A - r.(?) p.(Gly781Asp) - - - - - - - - - - - - - - - - - - -
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