Individual #00001511

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CSS
Owner name Gijs Santen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema


Phenotypes

Coffin-Siris syndrome (CSS) (CSS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000000693 - CSS brith 37w, weight SD -2.5, OFC SD; haemangioma (in sacral area); death from seizures, status epilepticus; myopia severe -10D (HP:0011003); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); seizures (HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), ear tags (HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum; myopia (HP:0000545); Isolated (sporadic) 09y09m - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001282 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 13 Gijs Santen
0000001339 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
6 Unknown ?/? - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - NM_020732.3:c.2038-35G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - NM_020732.3:c.2038-35G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2039793A>C g.2039793A>C - - SMARCA2_000040 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.683A>C - r.(?) p.(Gln228Pro) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2056861_2056862ins - - - chr9_000300 Variant Error [ESYNTAX]: This genomic variant has an error (char 34: end of input). Please fix this entry and then remove this message. - - - Unknown - - - - - Gijs Santen - - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.2349-10del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2101545T>A g.2101545T>A - - SMARCA2_000032 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.3079-25T>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2116037G>A g.2116037G>A - - SMARCA2_000048 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.3672G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2161733T>G g.2161733T>G - - SMARCA2_000049 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.4029T>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2161949C>T g.2161949C>T - - SMARCA2_000050 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.4199+46C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11129600C>T g.11018924C>T - - SMARCA4_000032 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.2439-33C>T, NM_001128849.1:c.2439-33C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
22 Unknown ?/? - VUS g.24167659_24167660dup g.23825472_23825473dup - - SMARCB1_000038 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - NM_003073.3:c.986+57_986+58dup - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
22 Unknown ?/? - VUS g.24175863_24175865del g.23833676_23833678del - - SMARCB1_000001 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - NM_003073.3:c.1091_1093del - r.(?) p.(Lys364del) - - - - - - - - - - - - - - - - - - -
22 Unknown ?/? - VUS g.24176287G>A g.23834100G>A - - SMARCB1_000009 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - NM_003073.3:c.1119-41G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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