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GENATLAS PHENOTYPE

last update : 26-01-2009

Symbol	MRBDT
Location	22q11.23
Name	malignant rhabdoid tumors
Other name(s)	rhabdoid tumor
Corresponding gene	SMARCB1
Other symbol(s)	RDT, MRT
Main clinical features	familial and sporadic, including some other tumors, like choroid plexus carcinomas, a subset of melanomas and central primitive neuroectodermal tumors (see TSG22D)
Genetic determination	other
	autosomal dominant
Function/system disorder	connective tissue
Type	malignancy

Remark(s)

biallelic constitutional and acquired or both acquired, truncating mutations or LOH