Individual #00001503

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I, MCLMR, PSORP, USH-3B
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     
0000000685 a terme - - Isolated (sporadic) 0.5 40y - not measured - - - + birth - + inguinal hernia bilateral, 3 hypomelanitic maculae. - no - - NA ? delayed - nr - ? speech delayed (HP:0000750), moderate moderate ? normal - eyelashes, normal delayed gross motor skills (HP:0002194); delayed fine motor skills (HP:0010862) + + - normal normal - short + cleft palate (HP:0000175, +) abnormal - + - no + - ? brachydactyly (HPO_000156) - 5th ? ? ? inguinal hernia VSD - - yes ? ? ? ? ? - - inguinal - - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001274 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 15 Gijs Santen
0000001337 DNA MLPA - - ARID1B Not yet submitted Gijs Santen



Variants

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

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
6 Unknown g.157150583T>C g.156829449T>C - - ARID1B_000023 - - - - Unknown - - - - - Gijs Santen ARID1B ?/? - - - - - - NM_020732.3:c.1737+28T>C - - 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.(=) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.2029018G>A - - - SMARCA2_000054 - - - - Unknown - - - - - Gijs Santen SMARCA2 ?/? - - - - - - NM_003070.3:c.-5G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.2039826_2039834dup - - - SMARCA2_000041 - - - - Unknown - - - - - Gijs Santen SMARCA2 ?/? - - - - - - NM_003070.3:c.716_724dup - - r.(?) p.(Pro239_Gln241dup) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen SMARCA2 ?/? - - - - - - NM_003070.3:c.2349-10del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.2088650del - - - SMARCA2_000029 - - - - Unknown - - - - - Gijs Santen SMARCA2 ?/? - - - - - - NM_003070.3:c.2883+37del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.2096774G>A - - - SMARCA2_000030 - - - - Unknown - - - - - Gijs Santen SMARCA2 ?/? - - - - - - NM_003070.3:c.2991+10G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.2170512G>C - - - SMARCA2_000051 - - - - Unknown - - - - - Gijs Santen SMARCA2 ?/? - - - - - - NM_003070.3:c.4253+40G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.11102007C>T g.10991331C>T - - SMARCA4_000025 - - - - Unknown - - - - - Gijs Santen SMARCA4 ./. - - - - - - NM_001128844.1:c.1419+8C>T, NM_001128849.1:c.1419+8C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.11144027G>A g.11033351G>A - - SMARCA4_000016 - - - - Unknown - - - - - Gijs Santen SMARCA4 ./. - - - - - - NM_001128844.1:c.3608G>A, NM_001128849.1:c.3608G>A - - r.(?) p.(Arg1203His) - - - - - - - - - - - - - - - - - - - - - - -
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