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GENATLAS PHENOTYPE

last update : 12-04-2018

Symbol	SRXX5
Location	15q26.2
Name	46XX sex reversal 5
Other name(s)	virilization and congenital heart disease (CHD)
Corresponding gene	NR2F2
Main clinical features	genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital diaphragmatic hernia gonadal axis hormone measurements showed elevated testosterone, LH, and FSH in infancy and early childhood, with near-normalization around puberty
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
	sex-genitalia
Type	disease

Remark(s)

. is caused by protein-truncating mutations in the orphan nuclear receptor NR2F2 (PMID: 29478779))