Individual #00311172

ID_report Case 2
Reference PubMed: Kaiwar 2017
Remarks -
Gender F
Consanguinity ?
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BBSOAS
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-21 10:17:55 +02:00 (CEST)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Phenotypes

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (BBSOAS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000236426 Caesarian section (HP:0011410); Premature rupture of membranes (HP:0001788); Maternal hypertension (HP:0008071); Hyperemesis gravidarum (HP:0012188); Feeding difficulties in infancy (HP:0008872); Nasogastric tube feeding in infancy (HP:0011470); Heart murmur (HP:0030148); Bicuspid aortic valve (HP:0001647); Aortic aneurysm (HP:0004942); Muscular hypotonia (HP:0001252); Amblyopia (HP:0000646); Anisometropia (HP:0012803); Strabismus (HP:0000486); Neurodevelopmental delay (HP:0012758); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Cupped ear (HP:0000378); Macrocephaly (HP:0000256); Broad proximal phalanges of the hand (HP:0009852) - - Isolated (sporadic) 05y - 00y00m03d - - Benjamin Billiet



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312327 DNA SEQ-NG - - NR2F1 1 Benjamin Billiet
0000312328 DNA SEQ-NG - - NOTCH1 1 Benjamin Billiet
0000312329 DNA SEQ-NG - - SGSH 1 Benjamin Billiet



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
5 Unknown +?/. - likely pathogenic (dominant) g.92929391T>C - - - NR2F1_000079 - PubMed: Kaiwar 2017 - - De novo ? - - - - Benjamin Billiet NR2F1 - - - - - NM_005654.4:c.1115T>C - r.(?) p.(Leu372Pro) - - - - - - - - - - - - - -
9 Paternal (confirmed) ?/. - VUS g.139391076C>T - - - NOTCH1_000409 - PubMed: Kaiwar 2017 - - Germline ? - - - - Benjamin Billiet NOTCH1 - - - - - NM_017617.3:c.7115G>A - r.(?) p.(Arg2372Gln) - - - - - - - - - - - - - -
17 Paternal (confirmed) ?/. - VUS g.78190860G>A - - - SGSH_000011 - PubMed: Kaiwar 2017 - - Germline ? - - - - Benjamin Billiet SGSH - - - - - NM_000199.3:c.220C>T - r.(?) p.(Arg74Cys) - - - - - - - - - - - - - -
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