Individual #00377108

ID_report Individual E-1
Reference PubMed: Bosch 2021
Remarks 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
Gender M
Consanguinity yes
Country Pakistan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BDVS
Owner name Moritz Hebebrand
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Moritz Hebebrand
Date created 2021-07-04 19:36:24 +02:00 (CEST)
Date last edited 2022-01-27 15:58:13 +01:00 (CET)


Phenotypes

Blakemore-Durmaz-Vasileiou syndrome (BDVS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000294042 Blakemore-Durmaz-Vasileiou syndrome BDVS Infantile hypotonia HP:0008947, Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Motor delay HP:0001270, Delayed speech and language development HP:0000750, Behavioral abnormality HP:0000708, Brain imaging abnormality HP:0410263, Hypothyroidism HP:0000821, Insulin resistance HP:0000855, Enuresis HP:0000805, Macrocephaly HP:0000256, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Periorbital fullness HP:0000629, narrow palpebral fissures HP:0045025, Low hanging columella HP:0009765, short philtrum HP:0000322, Cupid bow upper lip HP:0002263, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347, Tapering fingers HP:0001182, Pes planus HP:0001763 and 'vetricular septal defect, 'intermittent exotropia, hepatic steatosis, esophageal varices, acanthosis nigricans, obstructive sleep apnea, hypertrichosis, pes valgus Familial, autosomal recessive 15y - - - Moritz Hebebrand



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378311 DNA SEQ-NG blood - - 1 Moritz Hebebrand



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     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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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     
4 Both (homozygous) +/. ACMG pathogenic (recessive) g.166408610del g.165487458del - - CPE_000016 - PubMed: Bosch 2021 - - Germline - - - - - Moritz Hebebrand CPE - - - - - NM_001873.2:c.994del - r.(?) p.(Ser333Alafs*22) - - - - - - - - - - - - - -
Legend   How to query  


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