Individual #00001539

ID_report -
Reference -
Remarks -
Gender M
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     
0000000721 - CSS brith 38w, weight SD -1; Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated, 1st tooth at 1y; MRI-brain Normal (mega cisterna magna); Right optic disc coloboma and nystagmus(similar to mother); birth feeding problems; no seizures (-HP:0001250); undescended testes; severe speech delay (HP:0000750); moderate-severe intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); brachydactyly (HP:000156);;; no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); coloboma (HP:0000589); Isolated (sporadic) 01y - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001310 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 5 Gijs Santen
0000001349 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     

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VIP     

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Owner     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

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P-domain     

Exon_old     

Function/GVS     

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Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
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.11170839T>C g.11060163T>C - - SMARCA4_000020 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.4887T>C, NM_001128849.1:c.4983T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
22 Unknown ?/? - VUS g.24135703A>T g.23793516A>T - - SMARCB1_000010 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - NM_003073.3:c.233-43A>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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