Individual #00225433

ID_report -Fam1Pat1/2
Reference Journal: Chang 2019
Remarks 2-generation family, affected sister/brother, unaffected heterozygous carrier parents
Gender F;M
Consanguinity no
Country Korea, South (Republic)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
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     
0000170548 SPONASTRIME dysplasia - see paper; … Familial, autosomal recessive 7y9m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226512 DNA SEQ;SEQ-NG - WES TONSL 10 Johan den Dunnen



Variants

10 entries on 1 page. Showing entries 1 - 10.
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Chr     

Allele     

Effect     

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     

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     

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 level     
7 Paternal (confirmed) ?/. g.103179594C>T - - - RELN_000064 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen RELN - - - - - - NM_005045.3:c.7111G>A - VUS r.(?) p.(Ala2371Thr) - - - - - - - - - - - - - - - - - - -
7 Maternal (confirmed) ?/. g.103207075C>T - - - RELN_000100 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen RELN - - - - - - NM_005045.3:c.4720G>A - VUS r.(?) p.(Ala1574Thr) - - - - - - - - - - - - - - - - - - -
8 Maternal (confirmed) +/. g.145657122_145658684del - ex23 del - TONSL_000038 - Journal: Chang 2019 - - Germline yes - - 0 - Johan den Dunnen TONSL - - - - - 22i_23i NM_013432.4:c.3559+287_3735+546del - pathogenic (recessive) r.? p.(Asp1187Glyfs*21) - - - - - - - - - - - - - - - - - - -
8 Paternal (confirmed) +/. g.145660909G>A - - - TONSL_000037 - Journal: Chang 2019 - - Germline yes - - 0 - Johan den Dunnen TONSL - - - - - - NM_013432.4:c.2800C>T - pathogenic (recessive) r.(?) p.(Arg934Trp) - - - - - - - - - - - - - - - - - - -
10 Maternal (confirmed) ?/. g.123843210G>A - - - TACC2_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen TACC2 - - - - - - NM_206862.2:c.1195G>A - VUS r.(?) p.(Gly399Arg) - - - - - - - - - - - - - - - - - - -
10 Paternal (confirmed) ?/. g.123845455C>T - - - TACC2_000003 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen TACC2 - - - - - - NM_206862.2:c.3440C>T - VUS r.(?) p.(Pro1147Leu) - - - - - - - - - - - - - - - - - - -
15 Paternal (confirmed) ?/. g.32912309G>A - - - ARHGAP11A_000003 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen ARHGAP11A - - - - - - NM_014783.3:c.130G>A - VUS r.(?) p.(Gly44Ser) - - - - - - - - - - - - - - - - - - -
15 Maternal (confirmed) ?/. g.32928766A>G - - - ARHGAP11A_000004 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen ARHGAP11A - - - - - - NM_014783.3:c.1792A>G - VUS r.(?) p.(Lys598Glu) - - - - - - - - - - - - - - - - - - -
22 Paternal (confirmed) ?/. g.50277352T>G - - - ZBED4_000003 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen ZBED4 - - - - - - NM_014838.2:c.42T>G - VUS r.(?) p.(Asp14Glu) - - - - - - - - - - - - - - - - - - -
22 Maternal (confirmed) ?/. g.50280156C>T - - - ZBED4_000004 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen ZBED4 - - - - - - NM_014838.2:c.2846C>T - VUS r.(?) p.(Thr949Met) - - - - - - - - - - - - - - - - - - -
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