Patología - Síndrome DICER1

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wdt_ID	id	Gene	Somarizing	Germline Variant	Organ	Diagnosis	Notes	Somatic Variant	Som. Protein	Som. Var. 2	Protein 2	Som. Test. Notes	Age Dx (y.)	Age Dx (d.)	Material
1	286	ι	ι	ι	Testis	Cancer	+ microcalcification in left testis	ι	ι	ι	ι	ι	ι	ι	Available
2	594	ι	ι	ι	Thyroid	ι	autoimmune thyroiditis	ι	ι	ι	ι	ι	ι	ι	Available
3	406	ι	ι	ι	Thyroid	Cyst(s)	benign	ι	ι	ι	ι	ι	ι	ι	Available
4	74	ι	ι	ι	Brain	Unknown	Benign tumour	ι	ι	ι	ι	ι	7	ι	Available
5	496	ι	ι	ι	Kidney	Wilms Tumour	bilateral	ι	ι	ι	ι	ι	4	ι	Available
6	230	ι	ι	ι	ι	ι	camptodactyly	ι	ι	ι	ι	ι	ι	ι	Available
7	229	ι	ι	ι	ι	ι	camptodactyly and clinodactily	ι	ι	ι	ι	ι	ι	ι	Available
8	89	ι	ι	ι	Thyroid	Multinodular Goiter	colloid	ι	ι	ι	ι	ι	56	ι	Available
9	554	ι	ι	ι	Pituitary	Pituitary Blastoma	Cushings	ι	ι	ι	ι	ι	12	ι	Available
10	547	ι	ι	ι	Salivary Gland	ι	Cylindroma of parotid	ι	ι	ι	ι	ι	ι	ι	Available
11	74	ι	ι	ι	Thyroid	Cyst(s)	Cystic lesion	ι	ι	ι	ι	ι	11	ι	Available
12	73	ι	ι	ι	Ovary	Germ Cell Tumour	Cystic teratoma	ι	ι	ι	ι	ι	18	ι	Available
13	73	ι	ι	ι	Thyroid	Multinodular Goiter	Diffuse goiter	ι	ι	ι	ι	ι	18	ι
14	230	ι	ι	ι	Colon	ι	diverticulitis	ι	ι	ι	ι	ι	ι	ι	Available
15	390	ι	ι	ι	Unknown	Germ Cell Tumour	Endodermal sinus tumour	ι	ι	ι	ι	ι	ι	ι	Available
16	231	ι	ι	ι	Thyroid	ι	Enlarged thyroid	ι	ι	ι	ι	ι	ι	ι	Available
17	233	ι	ι	ι	ι	ι	Epilepsy	ι	ι	ι	ι	ι	25	ι	Available
18	229	ι	ι	ι	ι	ι	Epilepsy, absence seizures	ι	ι	ι	ι	ι	5	ι	Available
19	73	ι	ι	ι	ι	Nodule/Cyst	Femoral nerve area consistent with paratendinous cyst with chronic, non specific inflammation	ι	ι	ι	ι	ι	23	ι	Available
20	73	ι	ι	ι	ι	Schwannoma	Femoral nerve sheath tumour	ι	ι	ι	ι	ι	20	ι	Available
21	108	ι	ι	ι	Thyroid	ι	follicle	ι	ι	ι	ι	ι	ι	ι	Available
22	395	ι	ι	ι	Unknown	Germ Cell Tumour	Germinoma	ι	ι	ι	ι	ι	ι	ι	Available
23	393	ι	ι	ι	Unknown	Germ Cell Tumour	Germinoma	ι	ι	ι	ι	ι	ι	ι	Available
24	391	ι	ι	ι	Unknown	Germ Cell Tumour	Germinoma	ι	ι	ι	ι	ι	ι	ι	Available
25	76	ι	ι	ι	Thyroid	Unknown	Goiter/thyroid surgery	ι	ι	ι	ι	ι	ι	ι	Available
wdt_ID	id	Gene	Somarizing	Germline Variant	Organ	Diagnosis	Notes	Somatic Variant	Som. Protein	Som. Var. 2	Protein 2	Som. Test. Notes	Age Dx (y.)	Age Dx (d.)	Material

Note: Nuestro laboratori utiliza la transcripción NM_177438.2(DICER1_v001) para anotar variantes DICER1.