Individual #00001524

ID_report -
Reference -
Remarks -
Gender M
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     
0000000706 40 - - Isolated (sporadic) -0.8 11y - ? - - - feeding problems birth - - - normal generalized no - NA ? delayed - - normal - moderate moderate autism sparse thick eyelashes, long (trichomegaly, HP:0000527) delayed gross motor skills (HP:0002194); delayed fine motor skills (HP:0010862) - - - normal anteverted;thick + long + - normal - + no no - - - - - 5th - - + constipation Mild mitral valve insufficiency - delayed permanent yes - Mild delayed myelinisation - + - - - - - - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001295 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 16 Gijs Santen
0000001344 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

16 entries on 1 page. Showing entries 1 - 16.
Legend  

Chr     

Allele     

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     

Effect     

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.27107272dup g.26780781dup - - ARID1A_000096 - - - - Unknown - - - - - Gijs Santen ARID1A ?/? - - - - - - NM_006015.4:c.*25dup - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B ?/? - - - - - - NM_020732.3:c.2038-35G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B ?/? - - - - - - NM_020732.3:c.2038-35G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown g.157517445C>T g.157196311C>T - - ARID1B_000037 - - - - De novo - - - - - Gijs Santen ARID1B ?/? - - - - - - NM_020732.3:c.4009C>T - - r.(?) p.(Arg1337*) - - - - - - - - - - - - - - - - - - -
6 Unknown g.157522171T>G g.157201037T>G - - ARID1B_000039 - - - - Unknown - - - - - Gijs Santen ARID1B ?/? - - - - - - NM_020732.3:c.4443T>G - - 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.2101547C>T - - - SMARCA2_000038 - - - - Unknown - - - - - Gijs Santen SMARCA2 ?/? - - - - - - NM_003070.3:c.3079-23C>T - - 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.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.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.11169514C>T g.11058838C>T - - SMARCA4_000017 - - - - Unknown - - - - - Gijs Santen SMARCA4 ./. - - - - - - NM_001128844.1:c.4584C>T, NM_001128849.1:c.4680C>T - - 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.(=) - - - - - - - - - - - - - - - - - - -
Legend