Individual #00001517

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


Phenotypes

syndrome, Coffin-Siris (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     
0000000699 - CSS brith 39w, weight SD 0, OFC SD 2; camptodactyly 5th fingers, single palmar crease right, narrow, short feet, + (right), narrow, short,+,+; 10m first primary tooth; MRI-brain pachygyria (frontal lobes); seizures onset 7y, low frequency; no hypotonia; birth feeding problems 3y; no eczema (-HP:0000964); generalized tonic-clonic seizures (HP:0002069); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); 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); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); 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 dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); strabismus (HP:0000486) Isolated (sporadic) 12y - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001288 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 10 Gijs Santen
0000001342 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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.156654465_163410727del - - - PARK2_000136 - - - - Unknown - - - 0 - Gijs Santen ACAT2, AGPAT4, AGPAT4-IT1, AIRN, ARID1B, C6orf99, DYNLT1, EZR, FNDC1, GTF2H5, IGF2R, LPA, LPAL2, MAP3K4, MAS1, MIR3692, MIR3918, MIR4466, MRPL18, OSTCP1, PACRG, PARK2, PLG, PNLDC1, RSPH3, SERAC1, SLC22A1, SLC22A2, SLC22A3, SNORA20, SNORA29, SNX9, SOD2, SYNJ2, SYNJ2-IT1, SYTL3, TAGAP, TCP1, TMEM181, TMEM242, TULP4, WTAP, ZDHHC14 - - - - - _1_13_, NM_005891.2:c.-3528655_*3210866del, NM_020133.2:c.-1715847_*4903107del, NR_024277.1:n.-1827713_*4926681del, NR_047511.1:n.-2982031_*3769858del, NM_020732.3:c.-444599_*5881702del, NM_001195032.1:c.-2655274_*4079482del, NM_006519.2:c.-4344987_*2403394del, NM_003379.4:c.-4171602_*2533481del, NM_032532.2:c.-2936164_*3718253del, NM_207118.2:c.-1934997_*4797538del, NM_000876.2:c.-3735814_*2884611del, NM_005577.2:c.-2323440_*4298296del, NR_028093.1:n.-2478571_*4233122del, NM_005922.2:c.-4758499_*1872825del, NM_002377.2:c.-3673523_*3081762del, NR_037463.1:n.-1295699_*5460495del, NR_037482.1:n.-4224942_*2531228del, NR_039676.1:n.-6309862_*446347del, NM_014161.3:c.-3557155_*3191572del, NR_028496.1:n.-4132063_*2607684del, NM_152410.2:c.-6493923_292-72455del, NM_004562.2:c.-262027_*5116666del, NM_000301.3:c.-4468872_*2236634del, NM_173516.1:c.-3567007_*3169178del, NM_031924.4:c.-3989719_*2744105del, NM_032861.3:c.-4821557_*1877933del, NM_003057.2:c.-3888503_*2831113del, NM_003058.3:c.-2730938_*3983999del, NM_021977.3:c.-4114987_*2538639del, NR_002960.1:n.-3209314_*3546817del, NR_002965.1:n.-3203962_*3552161del, NM_016224.3:c.-1590002_*5046857del, NM_000636.2:c.-3296528_*3449060del, NM_001178088.1:c.-1784355_*4893331del, NR_046796.1:n.-1767674_*4987312del, NM_001009991.3:c.-2416964_*4225091del, NM_054114.3:c.-3944875_*2802394del, NM_030752.2:c.-3200227_*3545612del, NM_020823.1:c.-2303014_*4357807del, NM_018452.4:c.-5666196_*1059468del, NM_020245.3:c.-2080584_*4483001del, NM_152857.2:c.-3494279_*3241322del, NM_153746.1:c.-1148589_*5316573del - r.0? v, p.0? - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/? - VUS g.157528197C>T g.157207063C>T - - ARID1B_000046 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.5922C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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.2083338del g.2083338del - - SMARCA2_000042 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2349-9del - 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.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.2161949C>T g.2161949C>T - - SMARCA2_000050 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4199+46C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) ?/? - VUS g.2170512G>C g.2170512G>C - - SMARCA2_000051 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4253+40G>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2191309C>G g.2191309C>G - - SMARCA2_000034 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4638C>G - r.(?) p.(Asp1546Glu) - - - - - - - - - - - - - - - - - - - -
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