Individual #00225452

ID_report -Pat4
Reference Journal: Chang 2019
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity -
Country Brazil
Population African black;non-Latin European
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     
0000170567 SPONASTRIME dysplasia - see paper; … Familial, autosomal recessive 2y2m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226531 DNA SEQ;SEQ-NG - trio WES TONSL 15 Johan den Dunnen



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
1 Both (homozygous) g.6111610C>T - Thr5Met - KCNAB2_000003 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen KCNAB2 ?/. - - - - - - NM_003636.3:c.119+9678C>T - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) g.77334295delinsGCAACATC - CA>GCAACATCA Gln44_Gln45insHisGln - ST6GALNAC5_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen ST6GALNAC5 +/. - - - - - - NM_030965.1:c.129delinsGCAACATC - VUS r.(?) p.(Gln45Hisfs*73) - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) g.152059278G>A - - - TCHHL1_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen TCHHL1 +/. - - - - - - NM_001008536.1:c.880C>T - VUS r.(?) p.(Gln294*) - - - - - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) g.211523343G>T - - - CPS1_000268 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen CPS1 ?/. - - - - - - NM_001122633.2:c.3705G>T - VUS r.(?) p.(Lys1235Asn) - - - - - - - - - - - - - - - - - - - - - - -
3 Paternal (confirmed) g.48677114C>G - - - CELSR3_000006 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen CELSR3 ./. - - - - - - NM_001407.2:c.9904G>C - - r.(?) p.(Asp3302His) - - - - - - - - - - - - - - - - - - - - - - -
3 Maternal (confirmed) g.48697654C>G - - - CELSR3_000007 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen CELSR3 ?/. - - - - - - NM_001407.2:c.2414G>C - VUS r.(?) p.(Ser805Thr) - - - - - - - - - - - - - - - - - - - - - - -
4 Both (homozygous) g.155219788C>A - - - DCHS2_000007 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen DCHS2 ?/. - - - - - - NM_017639.3:c.4313G>T - VUS r.(?) p.(Arg1438Leu) - - - - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) g.36688967_36688984dup - Ala251_Pro252insAlaSerProGluGluAla - RAB44_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen RAB44 ?/. - - - - - - NM_001257357.1:c.1056_1073dup - VUS r.(?) p.(Ala353_Ala358dup) - - - - - - - - - - - - - - - - - - - - - - -
6 Maternal (confirmed) g.147674466G>A - - - STXBP5_000001 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen STXBP5 ?/. - - - - - - NM_001127715.2:c.2262G>A - VUS r.(?) p.(Met754Ile) - - - - - - - - - - - - - - - - - - - - - - -
6 Paternal (confirmed) g.147685274A>G - - - STXBP5_000002 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen STXBP5 ?/. - - - - - - NM_001127715.2:c.3053A>G - VUS r.(?) p.(Tyr1018Cys) - - - - - - - - - - - - - - - - - - - - - - -
8 Both (homozygous) g.145662463C>T - - - TONSL_000024 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL +/. - - - - - - NM_013432.4:c.1673G>A - pathogenic (recessive) r.(?) p.(Arg558Gln) - - - - - - - - - - - - - - - - - - - - - - -
10 Both (homozygous) g.55955567T>C - - - PCDH15_000303 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen PCDH15 ?/. - - - - - - NM_001142769.1:c.1196A>G, NM_033056.3:c.1181A>G - VUS r.(?) p.(Tyr399Cys), p.(Tyr394Cys) - - - - - - - - - - - - - - - - - - - - - - -
11 Paternal (confirmed) g.9051475G>C - Thr820Ser - SCUBE2_000002 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen SCUBE2 ?/. - - - - - - NM_020974.2:c.2288C>G - VUS r.(?) p.(Thr763Ser) - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.35758277_35758279dup - - - LSR_000005 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen LSR ?/. - - - - - - NM_015925.5:c.1497_1499dup, NM_205834.3:c.1554_1556dup - VUS r.(?) p.(Arg500dup), p.(Arg519dup) - - - - - - - - - - - - - - - - - - - - - - -
20 Maternal (confirmed) g.1292989C>T - - - FKBP1A-SDCBP2_000003 - Journal: Reynhout 2019 - - Germline - - - 0 - Johan den Dunnen FKBP1A-SDCBP2, SDCBP2 ?/. - - - - - - NR_037661.1:n.1002G>A, NM_080489.4:c.724G>A - VUS r.(?) -, p.(Gly242Arg) - - - - - - - - - - - - - - - - - - - - - - -
Legend