Individual #00001517

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CSS
Owner name Gijs Santen


Phenotypes

Coffin-Siris syndrome (CSS) (CSS)   Add phenotype for this disease

AscendingPhenotype ID     

Birth_Details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Birth/Weight     

Age/Examination     

Age/Diagnosis     

OFC at birth (SDS)     

Age/Onset     

Height-Weight-OFC     

Phenotype/Onset     

Abdominal/Symptoms     

Feeding_Problems/Start     

Feeding_Problems/Duration     

Eczema     

Phenotype details     

Skin/Vascular     

Hypotonia     

Seizures     

Seizures/Age/Onset     

Seizure/Frequency     

Seizure/Type     

Growth     

Vision/Abnormality     

Vision/Other     

Hearing/Loss     

Other hearing problems     

Speech     

Cognitive/Impairment     

Behaviour/Abnormality     

Hair/Scalp     

Eyebrows     

Eyelashes     

MotorSkills     

Lacrimal_Duct     

Ptosis     

Choanal_Stenosis     

Nose/Bridge     

Nose/Alae     

Philtrum/Width     

Face/Philtrum     

Facial/Mouth/Wide     

Cleft     

Ears/Abnormal     

Ears/Tags     

Hypertrichosis     

Skin/Wrinkling     

Scoliosis     

Pectus_Excavatum     

Elbow/Dislocated     

Patella/Small     

Brachydactyly     

Phalanges/Distal/Absent_5th     

Nails/Small     

Joints/Interphalangeal/Proximal     

Phalanges/Distal/Prominent     

Joint/Laxity     

Intestine/Abnormality     

Heart/Abnormality     

Kidney/Abnormality     

Teeth/Anomalies     

Infections     

Epiphyses/Cone_shaped     

Brain/MRI     

Brain/Corpus_Callosum/Agenesis     

Missing hypoplastic phalanx of fingers or toes     

Bone/Age     

Stenosis_Pyloric     

Gastro-Esophoegal_Reflux     

Hernia     

Eye/Cornea     

Eye/Orbital     

Protein     

Eye/Movement     

Facial/Lips     

Owner     
0000000699 39 - - Isolated (sporadic) 0 12y - 2 - - - feeding problems birth 3 - camptodactyly 5th fingers, single palmar crease right, narrow, short feet, + (right), narrow, short,+,+; 10m first primary tooth - no seizures 7 low grand mal epi normal - - normal - severe severe hyperactivity sparse thick eyelashes, long (trichomegaly, HP:0000527) delayed gross motor skills (HP:0002194) - + - flat anteverted;thick + short + - abnormal - + no scoliosis + - - - - multiple - - + - - - - yes - pachygyria (frontal lobes) ? - - - - - - - - strabismus - 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     

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     

ClassClinical     

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     

Protein level     
6 Unknown +?/. g.156654465_163410727del - - - SNX9_000003 - - - - 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) ?/? g.157528197C>T g.157207063C>T - - ARID1B_000046 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.5922C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2056861_2056862ins - - - chr9_000300 - - - - Unknown - - - - - Gijs Santen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2083338del - - - SMARCA2_000042 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2349-9del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2088641del - - - SMARCA2_000037 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2883+28del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2101545T>A - - - SMARCA2_000032 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.3079-25T>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2116037G>A - - - SMARCA2_000048 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.3672G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2161949C>T - - - SMARCA2_000050 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4199+46C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) ?/? g.2170512G>C - - - SMARCA2_000051 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4253+40G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2191309C>G - - - SMARCA2_000034 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.4638C>G - - r.(?) p.(Asp1546Glu) - - - - - - - - - - - - - - - - - - -
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