Individual #00001535

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     
0000000717 - CSS brith 39w, weight SD -1.3, OFC 49 cm; tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin; sensitive to light; generalized hypotonia; birth feeding problems; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); MRI brain normal; Isolated (sporadic) 13y04m - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001306 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.157099777C>T g.156778643C>T - - ARID1B_000034 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - NM_020732.3:c.714C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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.2088650del g.2088650del - - SMARCA2_000037 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.2883+37del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2096794G>A g.2096794G>A - - SMARCA2_000031 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - NM_003070.3:c.2991+30G>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.11107085G>A g.10996409G>A - - SMARCA4_000039 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.1761+29G>A, NM_001128849.1:c.1761+29G>A - 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.11118711C>T g.11008035C>T - - SMARCA4_000030 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.2123+12C>T, NM_001128849.1:c.2123+12C>T - 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.24175861G>T g.23833674G>T - - SMARCB1_000062 - - - - De novo - - - - - Gijs Santen SMARCB1 - - - - - NM_003073.3:c.1089G>T - r.(?) p.(Lys363Asn) - - - - - - - - - - - - - - - - - - -
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