Individual #00001507

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     
0000000689 34 - - Isolated (sporadic) -0.5 08y06m - - - - - + birth 2 - - - + + 0.5 low generalized delayed normal nr - GH deficiency, cerebral malformations moderate-severe moderate Aggressiveness, hyperkinetic, significant short attention span sparse + eyelashes, long (trichomegaly, HP:0000527) delayed gross motor skills (HP:0002194); delayed fine motor skills (HP:0010862) - - - + anteverted;thick + long + - normal - + + no - - - + hypoplastic fifth only - + + - - - - + - + partial + delayed - - - - - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001278 DNA SEQ - - ARID1B 4 Gijs Santen



Variants

4 entries on 1 page. Showing entries 1 - 4.
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.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.157520029C>G g.157198895C>G - - ARID1B_000038 - - - - De novo - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.4098C>G - - r.(?) p.(Tyr1366*) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? g.157528077C>T g.157206943C>T - - ARID1B_000045 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.5802C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend