Individual #00415161

ID_report Fam5
Reference PubMed: Tummala 2022, Journal: Tummala 2022
Remarks 2 generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases DKC
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 2022-08-08 19:48:19 +02:00 (CEST)
Date last edited N/A


Phenotypes

dyskeratosis congenita (DKC) (DKC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000306962 dyskeratosis congenita Familial, autosomal recessive 26y - - - - 1y-abnormalities in skin pigmentation; 5y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; bilateral ptosis, tooth discolouration, intermediate increased response to mitomycin-C, basal carcinoma chest, squamous carcinoma and melanoma on leg, severe response to topical 5-FU treatment - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416442 DNA SEQ;SEQ-NG - WES ENOSF1, TYMS 6 Johan den Dunnen



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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     
18 Maternal (confirmed) +?/. - VUS (!) g.? g.? g.696402C>T - SMCHD1_000000 description variant not correct; post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1 PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - Johan den Dunnen ENOSF1 - - - - - NM_017512.5:c.309+838? - r.(?) p.(?) - - - - - - - - - - - - - -
18 Maternal (confirmed) ?/. - association g.657685G>C g.657685G>C - - TYMS_000003 associated with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs2853542 Germline - - - - - Johan den Dunnen TYMS - - - - - NM_001071.2:c.-58G>C - r.(?) p.(?) - - - - - - - - - - - - - -
18 Both (homozygous) ?/. - association g.657685_657712dup g.657685_657712dup - - TYMS_000004 rs45445694-3R, association with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs45445694 Germline - - - - - Johan den Dunnen TYMS - - - - - NM_001071.2:c.-58_-31dup - r.(?) p.(?) - - - - - - - - - - - - - -
18 Paternal (confirmed) +/. - pathogenic g.669097A>T g.669097A>T - - TYMS_000007 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - Johan den Dunnen TYMS - - - - - NM_001071.2:c.480A>T - r.(?) p.(Gln160His) - - - - - - - - - - - - - -
18 Paternal (confirmed) ?/. - VUS (!) g.673086A>G g.673086A>G - - TYMS_000001 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs2790 Germline - - - - - Johan den Dunnen TYMS - - - - - NM_001071.2:c.*89A>G - r.(?) p.(?) - - - - - - - - - - - - - -
18 Maternal (confirmed) ?/. - VUS (!) g.673447_673452dup g.673447_673452dup - - TYMS_000012 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs11280056 Germline - - - - - Johan den Dunnen TYMS - - - - - NM_001071.2:c.*450_*455dup - r.(?) p.(?) - - - - - - - - - - - - - -
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