Individual #00001535

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     
0000000717 39 - - Isolated (sporadic) -1.3 13y04m - 49cm - - - feeding problems birth - + tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin normal generalized no - NA ? delayed - nr sensitive to light normal - moderate moderate-severe autism sparse thick eyelashes, long (trichomegaly, HP:0000527) delayed gross motor skills (HP:0002194); delayed fine motor skills (HP:0010862) - - - normal normal;thick - normal + - abnormal - + no scoliosis + - - - - - + + + Umbilical hernia - - - ? - Not performed - - delayed - - - - - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001306 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 15 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     
1 Unknown ?/? g.27057621A>C g.26731130A>C - - ARID1A_000088 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.1351-22A>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? g.27089446G>C g.26762955G>C - - ARID1A_000090 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.2420-18G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? g.27100243C>T g.26773752C>T - - ARID1A_000092 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.4004+35C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? g.27107272dup g.26780781dup - - ARID1A_000096 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.*25dup - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? g.157099777C>T g.156778643C>T - - ARID1B_000034 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.714C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2096794G>A - - - SMARCA2_000031 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2991+30G>A - - 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.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.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.24175861G>T g.23833674G>T - - SMARCB1_000062 - - - - De novo - - - - - Gijs Santen SMARCB1 - - - - - - NM_003073.3:c.1089G>T - - r.(?) p.(Lys363Asn) - - - - - - - - - - - - - - - - - - -
Legend