Individual #00311092

ID_report DGAP169
Reference PubMed: Brown 2009
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 2020-09-17 11:15:22 +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     
0000236348 Caesarian section (HP:0011410); Poor suck (HP:0002033); Dysphagia (HP:0002015); Abnormality of the scalp hair (HP:0100037); Facial asymmetry (HP:0000324); Upslanted palpebral fissure (HP:0000582); Anteverted nares (HP:0000463); Broad nasal tip (HP:0000455); Micrognathia (HP:0000347); Abnormality of the pinna (HP:0000377); Muscular hypotonia of the trunk (HP:0008936); Reduced tendon reflexes (HP:0001315); Profound sensorineural hearing impairment (HP:0011476); Abnormality of the vestibulocochlear nerve (HP:0009591); Cochlear malformation (HP:0008554); Abnormality of the middle ear ossicles (HP:0004452); Abnormality of the vestibular window (HP:0040100); Abnormality of the seventh cranial nerve (HP:0010827); Growth delay (HP:0001510); Apneic episodes in infancy (HP:0005949); Strabismus (HP:0000486); Temporal hypotrichosis (HP:0004524); Delayed gross motor development (HP:0002194); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); - - Isolated (sporadic) 00y02m - 00y00m01d - - Benjamin Billiet



Screenings


AscendingScreening ID     

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Tissue     

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Variants found     

Owner     
0000312243 DNA SEQ-NG - - NR2F1 3 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     

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Exon_old     

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Predicted     

Type/DNA     

CpG     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
5 Unknown +?/. - likely pathogenic (dominant) g.(92593206_92691223)_(92784673_93074143)del - - - NR2F1_000050 NR2F1 and AK124699 removed, C5ORF21 partially deleted, cryptic 450-460kB deletion near both q15 and 5q33.2 break points PubMed: Brown 2009 - - De novo ? - - - - Benjamin Billiet NR2F1 - - - - _1_3_ NM_005654.4:c.-1687_*240{0} - r.0 p.0 - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.(93241892_93376816)_(153311373_153390771)inv - - inv(5)(q15q33.2) chr5_006365 - PubMed: Brown 2010 - - De novo - - - - - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.(153390771_153495446)_(153647252_153872038)del - - - GALNT10_000006 NR2F1 and AK124699 removed, C5ORF21 partially deleted, cryptic 450-460kB deletion at both q15 and 5q33.2 break points PubMed: Brown 2010 - - De novo - - - - - Johan den Dunnen GALNT10 - - - - _1_12_ NM_198321.3:-132_*4012{0} - r.0 p.0 - - - - - - - - - - - - - -
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