Individual #00303178

ID_report HD8PA1P
Reference PubMed: Kaiser 2014
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CDLS
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 2020-06-08 09:10:42 +02:00 (CEST)
Date last edited N/A


Phenotypes

Cornelia de Lange syndrome (CDLS) (CDLS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000230262 severe; died-10m; brachycephaly; low anterior hairline; large anterior and posterior fontanelles; arched eyebrows, no synophrys, long eyelashes, no hypertelorism, telecanthus, ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, no cleft palate, micrognathia/retrognathia; short neck; no cutis marmorata, hirsutism, no nevus flameus; small hands, adducted proximally set thumbs , no clinodactyly 5th finger, no short 5th finger, single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; brachydactyly, mild bowing of femora; Tetralogy of Fallot; genitourinary defect, bilateral renal cysts; bilateral undescended testes; mild hypospadias; gastroesophageal reflux; feeding problems infancy, NGT feeds; hearing loss, severe to profound SNHL bilat; no anomalies CNS; no seizures ; intellectual disability; birth 27w, birth weight 759g (SD -1,9), length 34.5cm (SD -1,1), OFC 22cm (SD -2,8); weight 5.3kg (Z -3,7), height 54.5cm (Z -6,6), OFC 35cm (SD -6,6); Cornelia De Lange Syndrome CDLS5 Unknown 6m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304303 DNA SEQ - - HDAC8 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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
X Unknown +/. - pathogenic (dominant) g.71791946T>G g.72572096T>G - - HDAC8_000059 - PubMed: Kaiser 2014 - - Unknown - - - - - Johan den Dunnen HDAC8 - - - - 2 NM_018486.2:c.125A>C - r.(?) p.(His42Pro) - - - - - - - - - - - - - -
Legend   How to query  


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