Individual #00443879

ID_report FamEPatIII2
Reference PubMed: Chatron 2020
Remarks 3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives
Gender M
Consanguinity yes
Country Turkey
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases DEE
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-12-05 10:17:31 +01:00 (CET)
Date last edited N/A


Phenotypes

encephalopathy, developmental and epileptic (DEE)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000333156 West syndrome DEE89 see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus Familial, autosomal recessive 16m - - - Johan den Dunnen



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000445376 DNA SEQ;SEQ-NG - WES - 14 Johan den Dunnen



Variants

14 entries on 1 page. Showing entries 1 - 14.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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ClinVar ID     

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Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Both (homozygous) ?/. - VUS g.227922752C>T g.227735051C>T NM_001161465:c.361G>A - JMJD4_000002 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen JMJD4, SNAP47 - - - - - NM_023007.2:c.361G>A, NM_053052.3:c.-359C>T - r.(?), r.(=) p.(Ala121Thr), p.(=) - - - - - - - - - - - - - -
1 Both (homozygous) ?/. - VUS g.231488695G>A g.231352949G>A NM_032018:c.1058G>A - SPRTN_000005 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen SPRTN - - - - - NM_032018.5:c.1058G>A - r.(?) p.(Ser353Asn) - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.166535445G>A g.165678935G>A NM_024969:c.940G>A - CSRNP3_000001 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen CSRNP3 - - - - - NM_024969.3:c.940G>A - r.(?) p.(Ala314Thr) - - - - - - - - - - - - - -
2 Both (homozygous) +/. - pathogenic (dominant) g.171715383C>T g.170858873C>T - - GAD1_000028 - PubMed: Chatron 2020 - - Germline yes - - - - Johan den Dunnen GAD1 - - - - - NM_000817.2:c.1591C>T - r.(?) p.(Arg531Ter) - - - - - - - - - - - - - -
3 Both (homozygous) ?/. - VUS g.121207534G>A g.121488687G>A NM_199420:c.4244C>T - POLQ_000024 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen POLQ - - - - - NM_199420.3:c.4244C>T - r.(?) p.(Pro1415Leu) - - - - - - - - - - - - - -
7 Both (homozygous) ?/. - VUS g.138603341G>C g.138918595G>C NM_001164665:c.1031C>G - KIAA1549_000148 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen KIAA1549 - - - - - NM_001164665.1:c.1031C>G - r.(?) p.(Thr344Ser) - - - - - - - - - - - - - -
10 Both (homozygous) ?/. - VUS g.51362996G>A g.49933372G>A ENST00000425119.2:c.1076C>T - PARG_000006 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen PARG - - - - - NM_003631.2:c.1076C>T - r.(?) p.(Thr359Ile) - - - - - - - - - - - - - -
15 Both (homozygous) ?/. - VUS g.42152851C>T g.41860653C>T NM_016642:c.7921G>A - SPTBN5_000018 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen SPTBN5 - - - - - NM_016642.3:c.7921G>A - r.(?) p.(Gly2641Ser) - - - - - - - - - - - - - -
15 Both (homozygous) ?/. - VUS g.45404133C>T g.45111935C>T NM_014080:c.346G>A - DUOX2_000144 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen DUOX2 - - - - - NM_014080.4:c.346G>A - r.(?) p.(Val116Met) - - - - - - - - - - - - - -
16 Both (homozygous) ?/. - VUS g.19516321A>C g.19504999A>C NM_001324067:c.637T>G - GDE1_000001 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen GDE1 - - - - - NM_016641.3:c.730T>G - r.(?) p.(Phe244Val) - - - - - - - - - - - - - -
17 Both (homozygous) ?/. - VUS g.61417478A>G g.63340117A>G NM_025185:c.1370A>G - TANC2_000045 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen TANC2 - - - - - NM_025185.3:c.1370A>G - r.(?) p.(Tyr457Cys) - - - - - - - - - - - - - -
19 Both (homozygous) ?/. - VUS g.59074674G>A g.58563307G>A NM_003422:c.970C>T - MZF1_000002 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen MZF1 - - - - - NM_198055.1:c.970C>T - r.(?) p.(Arg324Trp) - - - - - - - - - - - - - -
X Both (homozygous) ?/. - VUS g.6069437T>C g.6151396T>C NM_001282146:c.71A>G - NLGN4X_000071 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen NLGN4X - - - - - NM_020742.2:c.71A>G - r.(?) p.(Asn24Ser) - - - - - - - - - - - - - -
X Both (homozygous) ?/. - VUS g.21581349T>G g.21563231T>G ENST00000279451.4:c.1394-7T>G - CNKSR2_000072 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen CNKSR2 - - - - - NM_014927.3:c.1394-7T>G - r.(=) p.(=) - - - - - - - - - - - - - -
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