Individual #00001533

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     
0000000715 - CSS brith 41w, weight SD 1; mid face hypoplasia, hypertelorism, dental decay, mild lumbar lordosis, Shoret halluces, GOR, constipation; episodes of eye rolling; birth feeding problems; glue ear; mild speech delay (HP:0000750); mild intellectual disability; lashes out, poor sleep; anteverted nares (HP:0000463); long philtrum (HP:0000343); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); markedly delayed bone age (HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); recurrent infections (HP:0002719); MRI brain normal; Isolated (sporadic) 09y - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001304 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 15 Gijs Santen



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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     
1 Unknown ?/? - VUS g.27057621A>C g.26731130A>C - - ARID1A_000088 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - NM_006015.4:c.1351-22A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? - VUS g.27089446G>C g.26762955G>C - - ARID1A_000090 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - NM_006015.4:c.2420-18G>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? - VUS g.27100243C>T g.26773752C>T - - ARID1A_000092 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - NM_006015.4:c.4004+35C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? - VUS g.27107272dup g.26780781dup - - ARID1A_000096 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - NM_006015.4:c.*25dup - 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.(=) - - - - - - - - - - - - - - - - - - -
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.2088650del g.2088650del - - SMARCA2_000037 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.2883+37del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2096774G>A g.2096774G>A - - SMARCA2_000030 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.2991+10G>A - 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.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11105608T>C g.10994932T>C - - SMARCA4_000038 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.1524T>C, NM_001128849.1:c.1524T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11107133T>C g.10996457T>C - - SMARCA4_000013 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.1762-37T>C, NM_001128849.1:c.1762-37T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11136215C>G g.11025539C>G - - SMARCA4_000014 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.3168+31C>G, NM_001128849.1:c.3168+31C>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11145691C>T g.11035015C>T - - SMARCA4_000034 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.4053C>T, NM_001128849.1:c.4053C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11145853G>A g.11035177G>A - - SMARCA4_000035 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.4170+45G>A, NM_001128849.1:c.4170+45G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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