Individual #00001540

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     
0000000722 - CSS brith 40w, weight SD -3, OFC 35 cm; supernumerary thoracic vertebra (T13), cleft T5, bifid V rib; MRI-brain Mega cisterna magna, Absent rostrum corpus callosum and septum pellucidum, Hypoplastic posterior part corpus callosum; generalized hypotonia; birth abdominal feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); moderate-severe speech delayed (HP:0000750); moderate-severe intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); choanal stenosis (HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no 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); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); partial agenesis corpus callosum; optic disk (nerve) coloboma (HP:0000588); Isolated (sporadic) 01y02m - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001311 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 11 Gijs Santen
0000001350 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.27024007del g.26697516del - - ARID1A_000098 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - NM_006015.4:c.1113del - r.(?) p.(Gln372Serfs*19) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? - VUS g.157256650C>T g.156935516C>T - - ARID1B_000033 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - NM_020732.3:c.1977C>T - 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.(=) - - - - - - - - - - - - - - - - - - -
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.11113997G>T g.11003321G>T - - SMARCA4_000029 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.1944-19G>T, NM_001128849.1:c.1944-19G>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.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.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11168896A>G g.11058220A>G - - SMARCA4_000037 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - NM_001128844.1:c.4425-35A>G, NM_001128849.1:c.4521-35A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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