Individual #00428774

ID_report Pat3
Reference PubMed: Muffels 2023, Journal: Muffels 2023
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents/
Gender M
Consanguinity yes
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-01-10 16:33:32 +01:00 (CET)
Date last edited N/A


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000319658 intellectual disability - Familial, autosomal recessive see paper; ..., birth 37w, weight 2,140g (-1.6 SDS); 2y5m-height 91cm (-1 SDS); 2y5m-OFC 47.3cm (-1.5 SDS); no cleft palate; symmetrical palate; no heart defects; moderate developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; no joint dislocation; no joint hyperextensibility; no joint stiffness; resistant to sunburns; hepatomegaly at infancy; splenomegaly at infancy; no leukopenia; no AST/ALT increase; recurrent infections respiratory; hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); no infection associated lymphopenia (-HP:0410256); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); developmental stagnation (HP:0007281); no large fleshy ears (-HP:0002265); hypoplastic pubic bone (HP:0003173); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); aplasia/hypoplasia involving the pelvis (HP:0009103); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839) 04y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000430187 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
16 Both (homozygous) +?/. - likely pathogenic (recessive) g.66842465C>T g.66808562C>T - - NAE1_000002 - PubMed: Muffels 2023, Journal: Muffels 2023 - - Germline - - - - - Johan den Dunnen NAE1 - - - - - NM_003905.3:c.1289G>A - r.(?) p.(Arg430Gln) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.