Individual #00001546

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     
0000000728 38 - - Isolated (sporadic) -0.3 13y - 34 - - - + birth brief - - - + - - NA ? normal abnormal myopia severe -11D (HP:0011003) - ? mild moderate Hypersociablility normal + eyelashes, long (trichomegaly, HP:0000527) delayed gross motor skills (HP:0002194); normal fine motor skills (-HP:0010862) + - - - normal;thick + long + - abnormal - + - no - - + ? hypoplastic fifth only ? ? ? ? ? ? - ? ? ? partial + ? - - - myopia severe - - - vermillion thick lower Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001317 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 15 Gijs Santen
0000001356 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

15 entries on 1 page. Showing entries 1 - 15.
Legend  

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.157100298dup g.156779164dup - - ARID1B_000019 - - - - De novo - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.1235dup - - r.(?) p.(Ser413Valfs*122) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? g.157431564A>G g.157110430A>G - - ARID1B_000025 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.2282-42A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2349-10del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2096794G>A - - - SMARCA2_000031 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2991+30G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? g.11096851A>G g.10986175A>G - - SMARCA4_000028 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - - NM_001128844.1:c.356-14A>G, NM_001128849.1:c.356-14A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? g.11101993G>A g.10991317G>A - - SMARCA4_000024 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - - NM_001128844.1:c.1413G>A, NM_001128849.1:c.1413G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? g.11105593A>G g.10994917A>G - - SMARCA4_000027 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - - NM_001128844.1:c.1509A>G, NM_001128849.1:c.1509A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? 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 ?/? 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 ?/? 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 ?/? 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 ?/? 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.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? 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 ?/? g.24167659_24167660dup g.23825472_23825473dup - - SMARCB1_000038 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - - NM_003073.3:c.986+57_986+58dup - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
22 Unknown ?/? g.24176287G>A g.23834100G>A - - SMARCB1_000009 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - - NM_003073.3:c.1119-41G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend