Individual #00225453

ID_report -Pat5
Reference Journal: Chang 2019
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country Korea, South (Republic)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SPONASTRIME
Owner name Johan den Dunnen


Phenotypes

dysplasia, SPONASTRIME type (SPONASTRIME)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000170568 SPONASTRIME dysplasia - see paper; … Familial, autosomal recessive 2y7m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226532 DNA SEQ;SEQ-NG - quad WES TONSL 11 Johan den Dunnen



Variants

11 entries on 1 page. Showing entries 1 - 11.
Legend  

Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

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     

Protein/Stain     

Protein level     
5 Both (homozygous) g.180626104G>A - Thr288Met - TRIM7_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen TRIM7 ?/. - - - - - - NM_203296.1:c.239C>T - VUS r.(?) p.(Thr80Met) - - - - - - - - - - - - - - - - - - - - - - -
6 Parent #2 g.31921568T>C - - - NELFE_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen NELFE ?/. - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Parent #1 g.31922488G>C - - - NELFE_000002 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen NELFE ?/. - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Parent #2 g.160543065C>T - - - SLC22A1_000002 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen SLC22A1 ?/. - - - - - - NM_003057.2:c.98C>T - VUS r.(?) p.(Ala33Val) - - - - - - - - - - - - - - - - - - - - - - -
6 Parent #1 g.160557260C>T - - - SLC22A1_000003 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen SLC22A1 ?/. - - - - - - NM_003057.2:c.848C>T - VUS r.(?) p.(Pro283Leu) - - - - - - - - - - - - - - - - - - - - - - -
8 Paternal (confirmed) g.145666175C>G - - - TONSL_000025 no variant 2nd allele Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.1090G>C - pathogenic (recessive) r.(?) p.(Asp364His) - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #2 g.49431094T>C - - - KMT2D_000632 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen KMT2D ./. - - - - - - NM_003482.3:c.10045A>G - - r.(?) p.(Met3349Val) - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.49447776C>T - - - KMT2D_000724 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen KMT2D ?/. - - - - - - NM_003482.3:c.658G>A - VUS r.(?) p.(Gly220Arg) - - - - - - - - - - - - - - - - - - - - - - -
15 Parent #2 g.85641242A>C - - - PDE8A_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen PDE8A ?/. - - - - - - NM_002605.2:c.916A>C - VUS r.(?) p.(Ile306Leu) - - - - - - - - - - - - - - - - - - - - - - -
15 Parent #1 g.85659278T>C - - - PDE8A_000002 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen PDE8A ?/. - - - - - - NM_002605.2:c.1463T>C - VUS r.(?) p.(Ile488Thr) - - - - - - - - - - - - - - - - - - - - - - -
21 Both (homozygous) g.41151203G>A - - - IGSF5_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen IGSF5 ?/. - - - - - - NM_001080444.1:c.905G>A - VUS r.(?) p.(Arg302His) - - - - - - - - - - - - - - - - - - - - - - -
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