Individual #00247792

ID_report -
Reference PubMed: Byers 2018
Remarks patient with germline mosaicism and multiple TSC features; at 4yrs old speech was at the 12-month level - Dx of ASD; brain MRI at 3yrs 2mths showed multiple TSC features; renal USS and cardiac ECG normal; mother, father and a paternal half-brother examined and no signs of TSC reported
Gender M
Consanguinity ?
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases TSC
Owner name Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2019-07-18 02:51:13 +02:00 (CEST)
Date last edited 2019-07-18 03:45:27 +02:00 (CEST)


Phenotypes

tuberous sclerosis (TSC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

TSC/Features     

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Owner     
0000186947 symptoms tuberous sclerosis astrocytoma;autism;cortical tubers;macules hypomelanotic;nodules;spasm TSC-2 Unknown unilateral retinal astrocytic hamartoma (HP:0012778); delayed speech/language 00y06m 00y06m 00y06m - - - - - speech/language Rosemary Ekong



Screenings


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Owner     
0000248897 DNA MLPA Blood;Skin cultured skin fibroblasts from hypopigmented macule and normal skin tested; Array-CGH from buccal swab normal; Sanger SEQ of blood DNA negative TSC1, TSC2 1 Rosemary Ekong



Variants

1 entry on 1 page. Showing entry 1.
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Protein level     
16 Unknown +/. - pathogenic g.(?_2097990)_( 2098755_ 2100400)del - NM_000548.3:c.(?_-29) _(225_?)del - TSC2_002459 exons 1-2 deleted; ~25% mosaic; breakpoints not determined; reported that variant description is based on 42 exons which includes the noncoding exon 1 PubMed: Byers 2018 - - Germline ? - - - - Rosemary Ekong TSC2 - - - - _1_2i NM_000548.3:c.(?_-106)_(138+1_139-1)del - r.0? p.0? - - - - - - - - - - - - - -
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