Individual #00001532

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     
0000000714 40+5 - - Isolated (sporadic) -1 06y06m - - - - - feeding problems birth ongoing - hypopigmented patch, triangular face, pointed chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration normal no febrile - NA Febrile Convulsions delayed - - normal Glue ear severe severe hyperactivity sparse thick eyelashes, long (trichomegaly, HP:0000527) normal gross motor skills (-HP:0002194); delayed fine motor skills (HP:0010862) - - - flat normal;thick + normal + - abnormal - + no no - - - - - - - - - - ASD - - yes - Normal - - accelerated - - - - - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001303 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 9 Gijs Santen



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
9 Unknown ?/? g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2349-10del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2088641del - - - SMARCA2_000037 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2883+28del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/? 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 Both (homozygous) ?/? 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 Both (homozygous) ?/? 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 ?/? 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