Individual #00002364

ID_report -
Reference PubMed: Goodwin 2008
Remarks Patient 1 from Goodwin et al. (2008)
Gender ?
Consanguinity ?
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SLOS
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Smith-Lemli-Opitz syndrome (SLOS) (SLOS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Biochem     

Protein     

Age/Diagnosis     

Severity_score     

Owner     
0000001343 - Unknown - - - - ascertainment clinical presentation; postnatal cataract, microcephaly, ptosis, low set ears, cleft plaate, prominent alveolar ridges, micrognathia, webbed neck, postaxial polydactyly, 2-3 toe syndactyly, poor feeding cholesterol: 8 mg/dl, 7DHC: 24 mg/dl - 00y03m - Division of Human Genetics, Innsbruck



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002042 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
11 Unknown +?/+? - likely pathogenic g.71146819C>G g.71435773C>G - - DHCR7_000216 - PubMed: Waye et al. 2005 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck DHCR7 - - - - 9 NM_001360.2:c.1030G>C - r.(?) p.(Gly344Arg) - - - - - - - - - - - - - - - - - - -
11 Unknown +/+ - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck DHCR7 - - - - 7 NM_001360.2:c.724C>T - r.(?) p.(Arg242Cys) - - - - - - - - - - - - - - - - - - -
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