Individual #00001529

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CSS
Owner name Gijs Santen


Phenotypes

syndrome, Coffin-Siris (CSS) (CSS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000000711 - CSS brith 38w, weight SD -3, microcephaly; neonatal breathing diffiuclites, gastroesophageal reflux, fundoplication, chronic lung disease and bronchiectasis and lots of respiratory secretions, with secondary pulmonary hypertension, Oxygen dependent,Cryporchidism,Pubic hair since age 6y,Nasal obstruction, bilateral coax vara, no crying, dry fragile skin in infancy, asthma/hayfever, gynaecomastia, brachycephaly, thick guns, small down-slanting palpebral fissures, small chin, prominent fetal finger pads when younger, optic nerve hypoplasia; seizures onset 10y; anisometropic amblyopia, nr optic nerve hypoplasia (too unwell to be investigated); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); pyloric stenosis and inguinal hernia; dextrocardia; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); corpus callosum hypoplasia (HP:0002079), partial agenesis corpus callosum; pyloric stenosis (HP:0002021); inguinal hernia (HP:0000023); myopia (HP:0000545); Isolated (sporadic) 10y11m - - - - Gijs Santen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001300 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 8 Gijs Santen



Variants

8 entries on 1 page. Showing entries 1 - 8.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

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dbSNP ID     

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IDbase Accession Number     

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DNA change (cDNA)     

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RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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Predict/AGVGD     

Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Predict/Splice     

Legacy protein change     

Protein level     
6 Unknown ?/? - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.2038-35G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? - VUS g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.2038-35G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? - VUS g.157528975_157528976del g.157207841_157207842del - - ARID1B_000050 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.6700_6701del - r.(?) p.(Leu2234Glyfs*7) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2349-10del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2088650del g.2088650del - - SMARCA2_000037 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2883+37del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11170677A>G g.11060001A>G - - SMARCA4_000018 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - - NM_001128844.1:c.4769-44A>G, NM_001128849.1:c.4865-44A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
22 Unknown ?/? - VUS g.24167659_24167660dup g.23825472_23825473dup - - SMARCB1_000038 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - - NM_003073.3:c.986+57_986+58dup - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
22 Unknown ?/? - VUS g.24175863_24175865del g.23833676_23833678del - - SMARCB1_000001 - - - - Unknown - - - - - Gijs Santen SMARCB1 - - - - - - NM_003073.3:c.1091_1093del - r.(?) p.(Lys364del) - - - - - - - - - - - - - - - - - - - -
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